S129F (p.Ser129Phe) variant of SNCA (Alpha-synuclein)
S129F (p.Ser129Phe) in SNCA (Alpha-synuclein) is a missense 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.
S129F (p.Ser129Phe) variant details
- p.Ser129Phe
- rs756636909
- gnomAD 4-89702326-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.082
- CADD 0.20
- Population evidence available
- Structural context available
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score -0.04
- Literature evidence available