D189E (p.Asp189Glu) variant of STAT2 (P52630)
D189E (p.Asp189Glu) 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 0.13 / 1. The record also includes population frequency data and structural context.
D189E (p.Asp189Glu) variant details
- p.Asp189Glu
- rs1879265080
- ClinGen CA385263001
- ClinVar RCV001352223
- TOPMed rs1879265080
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.08
- CADD 17.20
- PolyPhen-2 0.94
- SIFT 0.18
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available