R7L (p.Arg7Leu) variant of KCNQ4 (P56696)
R7L (p.Arg7Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD 1-40784113-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.35
- MetaLR 0.80
- MetaSVM 0.32
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available