R8C (p.Arg8Cys) variant of KCNQ4 (P56696)
R8C (p.Arg8Cys) 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.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- gnomAD 1-40784115-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.41
- MetaLR 0.81
- MetaSVM 0.28
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available