R9G (p.Arg9Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9G (p.Arg9Gly) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 11-2445118-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available