R50C (p.Arg50Cys) variant of KCNJ5 (P48544)
R50C (p.Arg50Cys) 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 13; Familial hyperaldosteronism type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- rs781011854
- ClinGen CA6357829
- cosmic curated COSV57967
- ClinVar RCV001312895
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 13; Familial hyperaldosteronism type
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.74
- AlphaMissense 0.28
- MetaLR 0.77
- MetaSVM 0.66
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 13; Familial hyperald)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-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)