A3V (p.Ala3Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A3V (p.Ala3Val) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 11-2445106-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.35
- ESM-1b 0.16
- AlphaMissense 0.27
- MetaLR 0.86
- MetaSVM 0.77
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available