E50Q (p.Glu50Gln) variant of KCNH2 (hERG)
E50Q (p.Glu50Gln) in KCNH2 (hERG) 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 0.72 / 1. The record also includes experimental measurements, published literature, and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- rs1801938958
- ClinGen CA369865802
- ClinVar RCV001204379
- TOPMed rs1801938958
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- ESM-1b 0.98
- AlphaMissense 0.09
- MetaLR 0.94
- MetaSVM 1.14
- CADD 24.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 85.8
- 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)