R24G (p.Arg24Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R24G (p.Arg24Gly) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- gnomAD 11-2445165-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 24.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available