E79Q (p.Glu79Gln) variant of STAT2 (P52630)
E79Q (p.Glu79Gln) 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.
E79Q (p.Glu79Gln) variant details
- p.Glu79Gln
- rs764849880
- ClinGen CA6630926
- ClinVar RCV003104208
- ExAC rs764849880
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.09
- CADD 4.17
- PolyPhen-2 0.35
- SIFT 0.14
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available