C39R (p.Cys39Arg) variant of KCNH2 (hERG)
C39R (p.Cys39Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of KCNH2-related disorder; Cardiac arrhythmia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C39R (p.Cys39Arg) variant details
- p.Cys39Arg
- rs757491162
- ClinGen CA027276
- ClinVar RCV000559174
- ClinVar RCV002358441
- Conflicting interpretations
- KCNH2-related disorder; Cardiac arrhythmia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.70
- ClinVar: Conflicting classifications of pathogenicity (KCNH2-related disorder; Cardiac arrhythmia; Cardiovascular pheno)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.64
- 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)