S5C (p.Ser5Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S5C (p.Ser5Cys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 11-2445112-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.91
- MetaSVM 0.66
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available