C52W (p.Cys52Trp) variant of KCNH2 (hERG)
C52W (p.Cys52Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C52W (p.Cys52Trp) variant details
- p.Cys52Trp
- rs754921704
- ClinGen CA028777
- ClinVar RCV001248114
- ExAC rs754921704
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 0.88
- CADD 21.40
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00043)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 69.4
- 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)