G151R (p.Gly151Arg) variant of KCNJ5 (P48544)
G151R (p.Gly151Arg) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Long QT syndrome; Familial hyperaldosteronism type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G151R (p.Gly151Arg) variant details
- p.Gly151Arg
- rs386352319
- ClinGen CA163129
- cosmic curated COSV57962
- ClinVar RCV000122472
- Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome; Familial hyperaldosteronism type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HALD3)
- UniProt: Pathogenic (in HALD3)
- Structural context available
- Cited in: K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PMID 21311022)
- Cited in: KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (PMID 22203740)