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 0.43 / 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 0.426
- REVEL 0.55
- CADD 20.90
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)