S6F (p.Ser6Phe) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S6F (p.Ser6Phe) 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 0.47 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- TOPMed rs1266239855
- gnomAD rs1266239855
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.91
- MetaSVM 0.77
- CADD 22.70
- Population evidence available
- Structural context available