D43Y (p.Asp43Tyr) variant of GABRG2 (P18507)
D43Y (p.Asp43Tyr) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD 5-162000210-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 16.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available