A23A (p.Ala23Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23A (p.Ala23Ala) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- gnomAD 11-2445167-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available