S102F (p.Ser102Phe) variant of JAK1 (Tyrosine-protein kinase JAK1)
S102F (p.Ser102Phe) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autoinflammation, immune dysregulation, and eosinophilia. The record also includes structural context.
S102F (p.Ser102Phe) variant details
- p.Ser102Phe
- NCI-TCGA Cosmic COSV6109
- Ensembl rs2101215539
- Uncertain significance
- Autoinflammation, immune dysregulation, and eosinophilia
- Missense
- ClinVar: Uncertain significance (Autoinflammation, immune dysregulation, and eosinophilia)
- UniProt: Uncertain significance
- Structural context available