D17Y (p.Asp17Tyr) variant of KCNQ4 (P56696)
D17Y (p.Asp17Tyr) 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.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- gnomAD 1-40784142-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- MetaLR 0.86
- MetaSVM 0.41
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available