E11V (p.Glu11Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
E11V (p.Glu11Val) 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.
E11V (p.Glu11Val) variant details
- p.Glu11Val
- gnomAD 11-2445130-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.95
- MetaSVM 0.80
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available