G13D (p.Gly13Asp) variant of KCNQ2 (O43526)
G13D (p.Gly13Asp) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- gnomAD rs1339064804
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.39
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available