R12R (p.Arg12Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12R (p.Arg12Arg) 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.
R12R (p.Arg12Arg) variant details
- p.Arg12Arg
- gnomAD 11-2445132-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available