R19C (p.Arg19Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R19C (p.Arg19Cys) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- gnomAD 11-2445153-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.95
- MetaSVM 1.02
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available