R19L (p.Arg19Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R19L (p.Arg19Leu) 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.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 11-2445154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.95
- MetaSVM 0.98
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available