L11R (p.Leu11Arg) variant of KCNQ4 (P56696)
L11R (p.Leu11Arg) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- gnomAD 1-40784125-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.56
- MetaLR 0.94
- MetaSVM 0.82
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available