E11D (p.Glu11Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
E11D (p.Glu11Asp) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 11-2445131-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.32
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available