A3A (p.Ala3Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A3A (p.Ala3Ala) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- gnomAD 11-2445107-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 13.80
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available