R823Q (p.Arg823Gln) variant of KCNH2 (hERG)
R823Q (p.Arg823Gln) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Long QT syndrome; KCNH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R823Q (p.Arg823Gln) variant details
- p.Arg823Gln
- rs1064793147
- ClinGen CA16618403
- ClinVar RCV000481087
- ClinVar RCV001348803
- Conflicting interpretations
- not provided; Long QT syndrome; KCNH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- CADD 29.80
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome; KCNH2-related disorder)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 20.3
- 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)