R56S (p.Arg56Ser) variant of GABRA1 (P14867)
R56S (p.Arg56Ser) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- cosmic curated COSV50108
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available