S6Y (p.Ser6Tyr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S6Y (p.Ser6Tyr) 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 0.53 / 1. The record also includes population frequency data and structural context.
S6Y (p.Ser6Tyr) variant details
- p.Ser6Tyr
- TOPMed rs1266239855
- gnomAD rs1266239855
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.38
- ESM-1b 0.44
- AlphaMissense 0.17
- MetaLR 0.92
- MetaSVM 0.81
- CADD 22.50
- Population evidence available
- Structural context available