D17N (p.Asp17Asn) variant of KCNQ4 (P56696)
D17N (p.Asp17Asn) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- gnomAD 1-40784142-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- MetaLR 0.82
- MetaSVM 0.50
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available