A2D (p.Ala2Asp) variant of KCNQ4 (P56696)
A2D (p.Ala2Asp) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 1-40784098-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.37
- MetaLR 0.73
- MetaSVM 0.35
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available