G22A (p.Gly22Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G22A (p.Gly22Ala) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- gnomAD 11-2445161-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available