S5Y (p.Ser5Tyr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S5Y (p.Ser5Tyr) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- gnomAD 11-2445112-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.39
- ESM-1b 0.52
- AlphaMissense 0.20
- MetaLR 0.90
- MetaSVM 0.64
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available