Q75E (p.Gln75Glu) variant of KCNH2 (hERG)
Q75E (p.Gln75Glu) 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 0.61 / 1. The record also includes experimental measurements, published literature, and structural context.
Q75E (p.Gln75Glu) variant details
- p.Gln75Glu
- rs1801933977
- ClinGen CA369865564
- ClinVar RCV001323367
- Ensembl rs1801933977
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.08
- MetaLR 0.86
- MetaSVM 0.46
- PolyPhen-2 0.00
- SIFT 0.75
- MutPred 0.36
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 44.6
- 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)