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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.54
- MetaLR 0.99
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)