Article

pLM-SAV: A Δ-Embedding Approach for Predicting Pathogenic Single Amino Acid Variants

2025-05-28

Abstract excerpt

Predicting whether single amino acid variants (SAVs) in proteins lead to pathogenic outcomes is a critical challenge in molecular biology and precision medicine. Experimental determination of all possible mutation effects is infeasible, and while state-of-the-art tools such as AlphaMissense show promise, their diagnostic performance is insufficient and they are often difficult to run locally. We developed pLM-SAV,...

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Literature Corpus work: b015bf77-f312-57f7-90a0-1e75dcaa5d06
DOI: 10.1101/2025.05.24.655916

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