G16V (p.Gly16Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G16V (p.Gly16Val) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 11-2445141-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.10
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available