R30H (p.Arg30His) variant of KCNJ5 (P48544)
R30H (p.Arg30His) 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; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs142140011
- ClinGen CA6357817
- cosmic curated COSV57964
- ClinVar RCV002376329
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.60
- MetaLR 0.81
- MetaSVM 0.74
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-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)