R27H (p.Arg27His) variant of KCNH2 (hERG)
R27H (p.Arg27His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs199472828
- ClinGen CA008830
- ClinVar RCV000181921
- ClinVar RCV001213481
- Conflicting interpretations
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.12
- CADD 31.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 93.4
- 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)