R19P (p.Arg19Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R19P (p.Arg19Pro) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- gnomAD 11-2445154-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 1.02
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available