K13K (p.Lys13Lys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13K (p.Lys13Lys) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K13K (p.Lys13Lys) variant details
- p.Lys13Lys
- gnomAD 11-2445137-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available