R92Q (p.Arg92Gln) variant of STAT2 (P52630)
R92Q (p.Arg92Gln) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R92Q (p.Arg92Gln) variant details
- p.Arg92Gln
- rs146096134
- ClinGen CA6630921
- ClinVar RCV001366926
- ClinVar RCV004036990
- Conflicting interpretations
- Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.05
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Primary immunodeficiency with post-meas)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)