Q45H (p.Gln45His) variant of STAT2 (P52630)
Q45H (p.Gln45His) 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 0.17 / 1. The record also includes population frequency data and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- rs1879498369
- ClinGen CA385264032
- ClinVar RCV001247040
- Ensembl rs1879498369
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.07
- CADD 18.90
- PolyPhen-2 0.31
- SIFT 0.03
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available