G47R (p.Gly47Arg) variant of KCNH2 (hERG)
G47R (p.Gly47Arg) 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; Cardiovascular phenotype. 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.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs794728409
- ClinGen CA369865823
- ClinVar RCV002903396
- ClinVar RCV004617105
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype
- 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: Uncertain significance (Long QT syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 74.5
- 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)