R72W (p.Arg72Trp) variant of KCNJ5 (P48544)
R72W (p.Arg72Trp) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Long QT syndrome; Familial hyperaldosteronism type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R72W (p.Arg72Trp) variant details
- p.Arg72Trp
- rs757877367
- ClinGen CA6357841
- cosmic curated COSV10966
- ClinVar RCV001211391
- Conflicting interpretations
- not provided; Long QT syndrome; Familial hyperaldosteronism type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome; Familial hyperaldosteronism type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)