G53C (p.Gly53Cys) variant of KCNH2 (hERG)
G53C (p.Gly53Cys) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- rs199472842
- ClinGen CA369865785
- ClinVar RCV002010371
- ClinVar RCV002398079
- Conflicting interpretations
- Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.65
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 0.94
- SIFT 0.01
- MutPred 0.94
- ClinVar: Conflicting classifications of pathogenicity (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)