G12A (p.Gly12Ala) variant of KCNQ4 (P56696)
G12A (p.Gly12Ala) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- gnomAD 1-40784128-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.33
- MetaLR 0.65
- MetaSVM -0.00
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available