R14H (p.Arg14His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14H (p.Arg14His) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- TOPMed rs1424013094
- gnomAD rs1424013094
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.41
- ESM-1b 0.13
- AlphaMissense 0.15
- MetaLR 0.94
- MetaSVM 0.74
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available