Article

Human Proteome-wide Mechanistic Interpretation of Missense Variants through Protein Feature Enrichment Score

2026-05-28

Abstract excerpt

Missense variant interpretation remains a central challenge in clinical and medical genetics, with most observed variants being variants of uncertain significance (VUS). Computational variant effect predictors can achieve high pathogenicity classification performance, but without revealing the underlying mechanism and a translatable interpretation. Here we present the Protein Feature Enrichment Score (PFES), which...

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Literature Corpus work: 47c5b6eb-ed0d-56c0-9bab-01058ec3c37b
DOI: 10.64898/2026.05.26.726248

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