MutationTaster protocols

View MutationTaster computational protocol

MutationTaster statistics

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Associated diseases

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MutationTaster specifications


Unique identifier OMICS_00153
Name MutationTaster
Alternative name MutationTaster2
Interface Web user interface
Restrictions to use None
Input data Some coding sequence (ORF), gene (genomic sequence), and transcript (cDNA sequence).
Computer skills Basic
Version 2.0
Stability Stable
Maintained Yes


  • person_outline Dominik Seelow <>

Additional information

Publications for MutationTaster

MutationTaster in pipelines

PMCID: 5412354
PMID: 28379183
DOI: 10.3390/ijms18040770

[…] by allele frequency to exclude variants with allele frequency ≥0.05 in the 1000 genome project and exome aggregation consortium (exac) database, three exonic or splice-site variants remained. mutationtaster identified 209 analysable alterations (some variants mapped to more than one transcript) and three variants were predicted to be disease-causing. only one variant was predicted […]

PMCID: 5412354
PMID: 28379183
DOI: 10.3390/ijms18040770

[…] variants, comprising 160 snps and 33 indels, were called by haplotypecaller with confidence score ≥50. using wannovar with similar filtering criteria as case 1, four variants remained. analysis with mutationtaster identified 199 analysable alterations, and three variants were predicted to be disease-causing. again, only one variant was predicted to be mendelian disease-causing by kggseq ()., […]

PMCID: 4858276
PMID: 27149063
DOI: 10.1371/journal.pone.0153788

[…] from southern finland. nine intronic and six missense variants were identified (). the c.541c>t, p.(arg181trp), missense change was the only variant that was predicted to be pathogenic by both mutationtaster and pon-p software and was selected for further genotyping. based on finnish subjects in the exac dataset, the minor-allele frequency (maf) for the c.541c>t variant is estimated […]

PMCID: 5030299
PMID: 27708576
DOI: 10.3389/fnagi.2016.00220

[…] and (4) the human gene mutation database (hgmd) ( the effects of these variants were evaluated with several types of predictive software, including (1) mutationtaster (; (2) mutalyzer (; (3) spliceport (, (4) alternative splice site predictor (assp) […]

PMCID: 5030307
PMID: 27708560
DOI: 10.3389/fnins.2016.00428

[…] in exon 1 (table ). the five confirmed variants were ranked within the top six potentially etiologically relevant variants by our variant ranker algorithm and were all predicted to be deleterious by mutationtaster functional prediction algorithm (schwarz et al., ; table ). one confirmed slitrk1 variant (rs146746846) was also identified by vaast under a recessive model of inheritance (table ). […]

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MutationTaster in publications

PMCID: 5958119
PMID: 29773874
DOI: 10.1038/s41467-018-04193-w

[…] for all the identified mutations in the exome aggregation consortium (exac) and the genome aggregation database (gnomad) along with their prediction scores using mutation taster ( and polyphen 2 ( in silico tools. as a negative control, we performed screening for all variants that we detected in the ptsns patients […]

PMCID: 5955881
PMID: 29769598
DOI: 10.1038/s41598-018-26040-0

[…] clinical significance and ensemble prediction scores from the clinvar database, cosmic database, and dbnsfp database (metasvm, metalr, rs_dbsnp141, sift, polyphen2_hdiv, polyphen2_hvar, lrt, mutationtaster, mutationassessor, fathmm, provean gerp++, phylop46, siphy) were imported to nextgene mutation report (supplementary table )., mutant allele frequencies for atm aberrations […]

PMCID: 5952594
PMID: 29764467
DOI: 10.1186/s13018-018-0817-y

[…] sequencing (wgs) study of 30 unrelated northern chinese han patients, four different algorithms [including sift( [], polyphen-2 ( [], mutationtaster ( [], and gerp++ ( []] were used to predict deleterious variations at different snp loci. we found […]

PMCID: 5954162
PMID: 29765130
DOI: 10.1038/s41598-018-25827-5

[…] haplotypecaller. this included de novo assembly at each potential variant locus. variants were annotated and analysed using ingenuity variant analysis (iva) software (qiagen, redwood city, ca, usa), mutationtaster2, snpeff, seattleseq annotation server, and galaxy (via allele frequencies and additional annotations were drawn from 1000 genomes project, nhlbi go exome sequencing […]

PMCID: 5948820
PMID: 29751744
DOI: 10.1186/s12881-018-0593-x

[…] diagnosis of rs (omim # 259775)., the functional effect of this variant was studied using the in silico analysis tools. the variant was predicted to be disease-causing by mutation taster (, with a score of 58. the impact of the substitution of serine to threonine was predicted to be probably damaging (score of 0.972) by polyphen2 (polymorphismphenotypingv2) […]

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MutationTaster institution(s)
Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany; NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics, Cardiff University, Cardiff, UK
MutationTaster funding source(s)
Supported by grants from the Deutsche Forschungsgemeinschaft (SFB665 TP-C4), the Einsteinstiftung Berlin (A-2011-63) and the German Bundesministerium für Bildung und Forschung (mitoNET 01GM1113D).

MutationTaster review

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Daniel Webber's avatar image No country

Daniel Webber

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Great online tool for predicting variant effects!