G589S (p.Gly589Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
G589S (p.Gly589Ser) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe combined immunodeficiency disease; T-B+ severe combined imm. 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.
G589S (p.Gly589Ser) variant details
- p.Gly589Ser
- rs886039394
- ClinGen CA10588686
- cosmic curated COSV10826
- ClinVar RCV000255561
- Pathogenic/Likely pathogenic
- not provided; Severe combined immunodeficiency disease; T-B+ severe combined imm
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.83
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe combined immunodeficiency disease; T-B+ sev)
- EBI: Pathogenic (in T(-)B(+)NK(-) SCID)
- UniProt: Pathogenic (in T(-)B(+)NK(-) SCID)
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem… (PMID 14615376)
- Cited in: Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by… (PMID 10982185)