P12H (p.Pro12His) variant of KCNQ2 (O43526)
P12H (p.Pro12His) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- Ensembl rs867235322
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.53
- CADD 26.10
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available