L26H (p.Leu26His) variant of KCNQ4 (P56696)
L26H (p.Leu26His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L26H (p.Leu26His) variant details
- p.Leu26His
- gnomAD 1-40784170-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.40
- MetaLR 0.91
- MetaSVM 0.75
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available