R14R (p.Arg14Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14R (p.Arg14Arg) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 11-2445140-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available