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 uncertain significance in the context of KCNH2-related disorder; Cardiac arrhythmia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 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
- Uncertain significance
- KCNH2-related disorder; Cardiac arrhythmia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (KCNH2-related disorder; Cardiac arrhythmia; Cardiovascular pheno)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 130
- 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)