E11E (p.Glu11Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
E11E (p.Glu11Glu) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- rs2522014
- gnomAD 11-2445131-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available