R73C (p.Arg73Cys) variant of STAT2 (P52630)
R73C (p.Arg73Cys) 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 0.40 / 1. The record also includes population frequency data and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- rs768151761
- ClinGen CA6630929
- cosmic curated COSV58474
- ClinVar RCV002582051
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.36
- CADD 26.00
- PolyPhen-2 0.83
- SIFT 0.00
- 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 2.3e-05)
- Structural context available