G8D (p.Gly8Asp) variant of KCNQ2 (O43526)
G8D (p.Gly8Asp) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- gnomAD rs1217749752
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.53
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available