D17V (p.Asp17Val) variant of KCNQ4 (P56696)
D17V (p.Asp17Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- gnomAD 1-40784143-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.53
- MetaLR 0.85
- MetaSVM 0.52
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available