A140V (p.Ala140Val) variant of SNCA (Alpha-synuclein)
A140V (p.Ala140Val) in SNCA (Alpha-synuclein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A140V (p.Ala140Val) variant details
- p.Ala140Val
- rs1560475704
- gnomAD 4-89702336-ACATGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0783
- CADD 0.68
- Population evidence available
- Structural context available
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score -0.0323
- Literature evidence available