V24M (p.Val24Met) variant of KCNQ4 (P56696)
V24M (p.Val24Met) 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.
V24M (p.Val24Met) variant details
- p.Val24Met
- gnomAD 1-40784163-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.39
- MetaLR 0.92
- MetaSVM 0.81
- CADD 21.80
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available