P15H (p.Pro15His) variant of KCNQ4 (P56696)
P15H (p.Pro15His) 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, published literature, and structural context.
P15H (p.Pro15His) variant details
- p.Pro15His
- gnomAD 1-40784137-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.47
- MetaLR 0.82
- MetaSVM 0.45
- CADD 22.30
- PolyPhen-2 0.18
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available