D17H (p.Asp17His) variant of KCNQ4 (P56696)
D17H (p.Asp17His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D17H (p.Asp17His) variant details
- p.Asp17His
- Ensembl rs1647180556
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.41
- MetaLR 0.84
- MetaSVM 0.42
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available