Article
Deep learning tools predict variants in disordered regions with lower sensitivity.
BMC genomics - 12 Apr 2025
Luppino Federica, Lenz Swantje, Chow Chi Fung Willis, Toth-Petroczy Agnes
Abstract excerpt
BACKGROUND: The recent AI breakthrough of AlphaFold2 has revolutionized 3D protein structural modeling, proving crucial for protein design and variant effects prediction. However, intrinsically disordered regions-known for their lack of well-defined structure and lower sequence conservation-often yield low-confidence models. The latest Variant Effect Predictor (VEP), AlphaMissense, leverages AlphaFold2 models,...
Read the complete abstract on PubMedTopics
- Intrinsically Disordered Proteins
- Deep Learning
- Protein Conformation, alpha-Helical
- Mutation
- Methionine
- Proteome