S5S (p.Ser5Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S5S (p.Ser5Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- gnomAD 11-2445113-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available