R19A (p.Arg19Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R19A (p.Arg19Ala) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R19A (p.Arg19Ala) variant details
- p.Arg19Ala
- gnomAD 11-2445151-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available