P72R (p.Pro72Arg) variant of KCNH2 (hERG)
P72R (p.Pro72Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome 2; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
P72R (p.Pro72Arg) variant details
- p.Pro72Arg
- rs199473421
- ClinGen CA006299
- ClinVar RCV000058089
- ClinVar RCV000464288
- Likely pathogenic
- Long QT syndrome 2; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.98
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 0.82
- ClinVar: Likely pathogenic (Long QT syndrome 2; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0
- 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)