R8H (p.Arg8His) variant of KCNQ4 (P56696)
R8H (p.Arg8His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- gnomAD 1-40784116-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.35
- MetaLR 0.82
- MetaSVM 0.42
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available