G18A (p.Gly18Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G18A (p.Gly18Ala) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- gnomAD 11-2445147-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 25.90
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available