R19S (p.Arg19Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R19S (p.Arg19Ser) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- gnomAD 11-2445153-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 1.01
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available