Open access
Sep 2026
Interpretable Classification of Missense Variants Using ESM2 Embeddings and UMAP
Missense variants can alter protein stability, conformation, activity, or expression, yet their clinical interpretation remains challenging, particularly for variants of uncertain significance. Protein language models provide sequence derived representations that capture evolutionary and biophysical constraints, but...
Ugo Lomoio, T. Mazza, Pierangelo Veltri et al.
· Bioinformatics Advances · 0 citations