pLM-SAV: A Δ-Embedding Approach for Predicting Pathogenic Single Amino Acid Variants
Orsolya Gereben, Hedvig Tordai, Lana Khamisi, Erda Qorri, Tamás Hegedűs
pLM-SAV predicts pathogenic SAVs using delta-embeddings from protein language models, achieving high performance on labeled data and improving ambiguous predictions over AlphaMissense.
Bioinformatics Advances · Jan 1, 2026Peer-reviewedBioinformatics