R20P (p.Arg20Pro) variant of KCNH2 (hERG)
R20P (p.Arg20Pro) 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 record also includes experimental measurements, published literature, and structural context.
R20P (p.Arg20Pro) variant details
- p.Arg20Pro
- rs2486167154
- ClinGen CA369866657
- ClinVar RCV003036815
- Uncertain significance
- Long QT syndrome
- Missense
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 43.6
- 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)