E137K (p.Glu137Lys) variant of SNCA (Alpha-synuclein)
E137K (p.Glu137Lys) in SNCA (Alpha-synuclein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- rs1723915305
- gnomAD 4-89702372-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 5.87
- Population evidence available
- Structural context available
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score 0
- Literature evidence available