G526R (p.Gly526Arg) variant of STAT2 (P52630)
G526R (p.Gly526Arg) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.74 / 1. The record also includes population frequency data and structural context.
G526R (p.Gly526Arg) variant details
- p.Gly526Arg
- rs571666221
- ClinGen CA237650597
- cosmic curated COSV58474
- ClinVar RCV003062522
- Pathogenic
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.65
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available