E114K (p.Glu114Lys) variant of STAT2 (P52630)
E114K (p.Glu114Lys) 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 variant effect predictions and structural context.
E114K (p.Glu114Lys) variant details
- p.Glu114Lys
- rs1592490011
- ClinGen CA385263557
- ClinVar RCV001049114
- TOPMed rs1592490011
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- MutPred 0.47
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available