L26F (p.Leu26Phe) variant of KCNQ4 (P56696)
L26F (p.Leu26Phe) 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.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- gnomAD 1-40784169-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.31
- MetaLR 0.88
- MetaSVM 0.50
- CADD 18.30
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available