L369P (p.Leu369Pro) variant of JAK3 (Tyrosine-protein kinase JAK3)
L369P (p.Leu369Pro) 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.
L369P (p.Leu369Pro) variant details
- p.Leu369Pro
- rs2514570944
- ClinGen CA404771097
- ClinVar RCV003236634
- 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