L23V (p.Leu23Val) variant of KCNQ4 (P56696)
L23V (p.Leu23Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- gnomAD 1-40784160-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- MetaLR 0.82
- MetaSVM 0.35
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available