Mutationassessor statistics

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Mutationassessor specifications


Unique identifier OMICS_00134
Name Mutationassessor
Alternative name Mutation Assessor
Interface Web user interface, Application programming interface
Restrictions to use None
Input data A list of mutations.
Output data Some annotations corresponding to the inputted variant.
Computer skills Advanced
Stability Stable
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline MutationAssessor Team

Additional information

Publications for Mutationassessor

Mutationassessor citations


The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next generation sequencing

PMCID: 5826295
PMID: 29503567
DOI: 10.2147/OTT.S156998

[…] tolerant (sift;, polyphen-2 (pph2;, fathmm (, and mutation-assessor (ma;– as the condel scores consist of a weighted average of the scores of ma and fathmm, the condel scores were used to represent an integrated score for ma […]


A phenotype centric benchmark of variant prioritisation tools

PMCID: 5799157
PMID: 29423277
DOI: 10.1038/s41525-018-0044-9

[…] used six conservation scores (gerp++, phastcons100way-vertebrate, phastcons20way-mammalian, phylop100way-vertebrate, phylop20way-mammalian and siphy), nine functional prediction scores (fathmm, lrt, mutationassessor, mutationtaster, polyphen2-hdiv, polyphen2-hvar, provean, sift and vest3), six general prediction scores (cadd, dann, eigen-pc, fathmm-mkl, fitcons-i6 and genocanyon) and three […]


A meta analysis of associations of LEPR Q223R and K109R polymorphisms with Type 2 diabetes risk

PLoS One
PMCID: 5749718
PMID: 29293570
DOI: 10.1371/journal.pone.0189366

[…] package (, a total of 7 in silico tools were applied for functional prediction of lepr q223r and k109r: (1) mutation assessor [] (, (2) blosum62 [] (, (3) provean [] (, (4) polyphen-2 [] […]


TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis

PMCID: 5760196
PMID: 29261847
DOI: 10.1167/iovs.17-22819

[…] and evolutionary analysis of two missense variants using several publicly available bioinformatic tools: provean (protein variation effect analyzer), polyphen-2 (polymorphism phenotyping v.2), mutationassessor, panther, fathmm, align gvgd, mutpred, and mutation taster. although some of these tools have predicted both mutations to have moderate pathogenic potential, others found […]


NSD1 and NSD2 damaging mutations define a subset of laryngeal tumors with favorable prognosis

Nat Commun
PMCID: 5701248
PMID: 29176703
DOI: 10.1038/s41467-017-01877-7

[…] variants and regions from chromosomes x and y were removed from the data using standard approaches. for detailed analysis to identify nsd1 missense variants as deleterious or benign, we used the mutationassessor/functional impact score (fis), polyphen, and a grantham score available through seattleseq annotation server ( mutationmapper […]


Association analysis identifies 65 new breast cancer risk loci

PMCID: 5798588
PMID: 29059683
DOI: 10.1038/nature24284

[…] hmec samples. resultant scores ranged from 0 to 5.-intragenic variants were evaluated for their potential to impact protein function using a range of in silico prediction tools (cadd, fathmm, lrt, mutationassessor, mutation taster 2, polyphen-2, provean and sift for missense variants; human splicing finder and maxentscan for splice variants). we scored genes with missense and nonsense variants […]

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Mutationassessor institution(s)
Computational Biology Center, Memorial Sloan-Kettering Cancer Center, NY, USA

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