L9H (p.Leu9His) variant of KCNQ4 (P56696)
L9H (p.Leu9His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L9H (p.Leu9His) variant details
- p.Leu9His
- gnomAD 1-40784119-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.37
- MetaLR 0.85
- MetaSVM 0.54
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available