S703I (p.Ser703Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
S703I (p.Ser703Ile) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoinflammation, immune dysregulation, and eosinophilia. The record also includes variant effect predictions, published literature, and structural context.
S703I (p.Ser703Ile) variant details
- p.Ser703Ile
- rs1655173102
- ClinGen CA340667333
- NCI-TCGA Cosmic COSV6108
- Pathogenic
- Autoinflammation, immune dysregulation, and eosinophilia
- Missense
- MetaLR 0.52
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.35
- MutPred 0.47
- ClinVar: Pathogenic (Autoinflammation, immune dysregulation, and eosinophilia)
- EBI: Pathogenic (in AIIDE)
- UniProt: Pathogenic (in AIIDE)
- Structural context available
- Cited in: Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical… (PMID 32750333)
- Cited in: JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. (PMID 28111307)