K13S (p.Lys13Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13S (p.Lys13Ser) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K13S (p.Lys13Ser) variant details
- p.Lys13Ser
- gnomAD 11-2445134-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 24.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available