G572S (p.Gly572Ser) variant of KCNH2 (hERG)
G572S (p.Gly572Ser) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of KCNH2-related disorder; Cardiovascular phenotype; Autoimmune lymphoproliferative. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G572S (p.Gly572Ser) variant details
- p.Gly572Ser
- rs9333649
- ClinGen CA005241
- ClinVar RCV000057959
- ClinVar RCV000181811
- Pathogenic
- KCNH2-related disorder; Cardiovascular phenotype; Autoimmune lymphoproliferative
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.96
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (KCNH2-related disorder; Cardiovascular phenotype; Autoimmune lym)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)