A2A (p.Ala2Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A2A (p.Ala2Ala) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 11-2445104-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available