I39S (p.Ile39Ser) variant of STAT2 (P52630)
I39S (p.Ile39Ser) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection. The record also includes structural context.
I39S (p.Ile39Ser) variant details
- p.Ile39Ser
- rs757152982
- ClinGen CA385264094
- ClinVar RCV002927633
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available