L20Q (p.Leu20Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L20Q (p.Leu20Gln) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L20Q (p.Leu20Gln) variant details
- p.Leu20Gln
- TOPMed rs1846014924
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.94
- MetaSVM 0.95
- CADD 20.30
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available