Q39E (p.Gln39Glu) variant of JAK3 (Tyrosine-protein kinase JAK3)
Q39E (p.Gln39Glu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of T-B+ severe combined immunodeficiency due to JAK3 deficiency. The record also includes structural context.
Q39E (p.Gln39Glu) variant details
- p.Gln39Glu
- rs2514582265
- ClinGen CA404775217
- ClinVar RCV002810365
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available