G53R (p.Gly53Arg) variant of KCNH2 (hERG)
G53R (p.Gly53Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome. 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.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs199472842
- ClinGen CA004831
- ClinVar RCV000057924
- ClinVar RCV001267970
- Uncertain significance
- Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome
- 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: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)