E11G (p.Glu11Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
E11G (p.Glu11Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- rs2496740603
- ClinGen CA379115767
- ClinVar RCV003534092
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.94
- MetaSVM 0.76
- CADD 23.30
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)