R8L (p.Arg8Leu) variant of KCNQ4 (P56696)
R8L (p.Arg8Leu) 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 and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- TOPMed rs1647180247
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.40
- MetaLR 0.82
- MetaSVM 0.44
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available