G26A (p.Gly26Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G26A (p.Gly26Ala) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- gnomAD 11-2445164-CGCCCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available