Q180E (p.Gln180Glu) variant of STAT2 (P52630)
Q180E (p.Gln180Glu) 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.
Q180E (p.Gln180Glu) variant details
- p.Gln180Glu
- rs1592489044
- ClinGen CA385263074
- ClinVar RCV000807124
- Ensembl rs1592489044
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- MutPred 0.64
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available