A25T (p.Ala25Thr) variant of KCNQ4 (P56696)
A25T (p.Ala25Thr) 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.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- gnomAD 1-40784166-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.33
- MetaLR 0.88
- MetaSVM 0.52
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available