G53D (p.Gly53Asp) variant of KCNH2 (hERG)
G53D (p.Gly53Asp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- rs199473491
- ClinGen CA004864
- ClinVar RCV000057926
- ClinVar RCV003326345
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.93
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)