I430T (p.Ile430Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
I430T (p.Ile430Thr) 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 record also includes structural context.
I430T (p.Ile430Thr) variant details
- p.Ile430Thr
- rs2514566418
- ClinGen CA404770425
- ClinVar RCV003621777
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available