R20L (p.Arg20Leu) variant of KCNQ4 (P56696)
R20L (p.Arg20Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 1-40784152-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- MetaLR 0.83
- MetaSVM 0.45
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available