A4A (p.Ala4Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4A (p.Ala4Ala) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs1174214693
- gnomAD 11-2444697-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.81
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available