R52H (p.Arg52His) variant of KCNJ5 (P48544)
R52H (p.Arg52His) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- rs144062083
- ClinGen CA6357832
- ClinVar RCV001304278
- ClinVar RCV002402850
- Uncertain significance
- Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.92
- MetaLR 0.88
- MetaSVM 0.95
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hyperaldosteronism type III;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- 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)