Q11R (p.Gln11Arg) variant of KCNH2 (hERG)
Q11R (p.Gln11Arg) 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 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- rs1156510876
- ClinGen CA369866733
- ClinVar RCV001373121
- TOPMed rs1156510876
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.74
- CADD 23.90
- PolyPhen-2 0.62
- SIFT 0.12
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 114
- 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)