R62Q (p.Arg62Gln) variant of KCNH2 (hERG)
R62Q (p.Arg62Gln) 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 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R62Q (p.Arg62Gln) variant details
- p.Arg62Gln
- rs199473664
- ClinGen CA005697
- ClinVar RCV000058016
- ClinVar RCV001215033
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.65
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 95.5
- 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)