Q192E (p.Gln192Glu) variant of STAT2 (P52630)
Q192E (p.Gln192Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q192E (p.Gln192Glu) variant details
- p.Gln192Glu
- rs1254058764
- ClinGen CA385262984
- ClinVar RCV001910954
- TOPMed rs1254058764
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.11
- CADD 11.50
- PolyPhen-2 0.14
- SIFT 0.44
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available