R92W (p.Arg92Trp) variant of STAT2 (P52630)
R92W (p.Arg92Trp) 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 0.32 / 1. The record also includes population frequency data and structural context.
R92W (p.Arg92Trp) variant details
- p.Arg92Trp
- rs746815427
- ClinGen CA6630922
- cosmic curated COSV58474
- ClinVar RCV001257209
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.26
- CADD 25.90
- PolyPhen-2 0.88
- 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 Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available