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Article

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.

Nature communications - 20 Nov 2020

Pejaver Vikas, Urresti Jorge, Lugo-Martinez Jose, Pagel Kymberleigh A, Lin Guan Ning, Nam Hyun-Jun, Mort Matthew, Cooper David N, Sebat Jonathan, Iakoucheva Lilia M, Mooney Sean D, Radivojac Predrag

Abstract excerpt

Identifying pathogenic variants and underlying functional alterations is challenging. To this end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid substitutions over existing methods, generates molecular mechanisms potentially causative of disease, and returns interpretable pathogenicity score distributions on individual genomes. Whilst its prioritization performance is...

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Identifiers

PMID: 33219223
DOI: 10.1038/s41467-020-19669-x
PMCID: PMC7680112

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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