P5H (p.Pro5His) variant of KCNQ4 (P56696)
P5H (p.Pro5His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P5H (p.Pro5His) variant details
- p.Pro5His
- gnomAD 1-40784107-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.34
- MetaLR 0.89
- MetaSVM 0.69
- CADD 23.80
- PolyPhen-2 0.56
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available