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Article

Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.

American journal of human genetics - 3 Jul 2025

Palafox Maria F, Boatner Lisa, Wilde Blake R, Christofk Heather, Backus Keriann M, Arboleda Valerie A

Abstract excerpt

Missense variants are the most common type of protein-altering genetic variation. Due to their wide-ranging potential functional consequences, missense variants are challenging to interpret and, as a result, are often classified as unknown pathogenicity or as variants of uncertain significance (VUSs). Genomic-based predictive tools have made significant inroads into the challenge of accurately pinpointing...

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Identifiers

PMID: 40412387
DOI: 10.1016/j.ajhg.2025.04.017
PMCID: PMC12256893

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FH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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