E11* (p.Glu11Ter) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
E11* (p.Glu11Ter) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- gnomAD 11-2445129-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available