A10V (p.Ala10Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A10V (p.Ala10Val) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 11-2445127-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM 0.74
- CADD 16.60
- Population evidence available
- Structural context available
- Literature evidence available