G47C (p.Gly47Cys) variant of KCNH2 (hERG)
G47C (p.Gly47Cys) 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 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- rs794728409
- ClinGen CA004565
- ClinVar RCV000181929
- ClinVar RCV001248792
- Pathogenic/Likely pathogenic
- Long QT syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome 2; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 74.5
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)