Q99H (p.Gln99His) variant of STAT2 (P52630)
Q99H (p.Gln99His) 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 population frequency data and structural context.
Q99H (p.Gln99His) variant details
- p.Gln99His
- rs367793690
- ClinGen CA6630902
- ClinVar RCV001233807
- ESP rs367793690
- 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
- Population evidence available
- Structural context available