R12E (p.Arg12Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12E (p.Arg12Glu) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R12E (p.Arg12Glu) variant details
- p.Arg12Glu
- gnomAD 11-2445128-CGA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available