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

ABSTRACT: 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 functional missense variants by providing genome-wide assessments of deleteriousness or potential pathogenicity. Complementary to these tools, here we provide an initial study into the utility of harnessing protein-based measures of amino acid reactivity to delineate functionally significant missense variants. These reactivity measurements, which are generated using mass spectrometry-base

SUBMITTER: Palafox MF 

PROVIDER: S-EPMC12256893 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature