P13H (p.Pro13His) variant of KCNQ4 (P56696)
P13H (p.Pro13His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P13H (p.Pro13His) variant details
- p.Pro13His
- gnomAD 1-40784131-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.50
- MetaLR 0.94
- MetaSVM 0.86
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available