A2G (p.Ala2Gly) variant of KCNQ4 (P56696)
A2G (p.Ala2Gly) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 1-40784098-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.28
- MetaLR 0.80
- MetaSVM 0.34
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available