R582W (p.Arg582Trp) variant of JAK3 (Tyrosine-protein kinase JAK3)
R582W (p.Arg582Trp) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of T-B+ severe combined immunodeficiency due to JAK3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R582W (p.Arg582Trp) variant details
- p.Arg582Trp
- rs193922361
- ClinGen CA214079
- cosmic curated COSV10594
- ClinVar RCV000030087
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.36
- CADD 29.70
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic (in T(-)B(+)NK(-) SCID)
- UniProt: Pathogenic (in T(-)B(+)NK(-) SCID)
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- Cited in: Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over… (PMID 9753072)
- Cited in: Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by… (PMID 10982185)