A25S (p.Ala25Ser) variant of KCNQ4 (P56696)
A25S (p.Ala25Ser) 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.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 1-40784166-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- MetaLR 0.86
- MetaSVM 0.47
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available