R9* (p.Arg9Ter) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9* (p.Arg9Ter) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- gnomAD 11-2444692-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.46
- Population evidence available
- Structural context available
- Literature evidence available