G71E (p.Gly71Glu) variant of KCNH2 (hERG)
G71E (p.Gly71Glu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
G71E (p.Gly71Glu) variant details
- p.Gly71Glu
- rs886039183
- ClinGen CA10587642
- ClinVar RCV000243747
- ClinVar RCV002518733
- Pathogenic/Likely pathogenic
- Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.70
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; Cardiovascular phenotype)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- 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)