R148Q (p.Arg148Gln) variant of STAT2 (P52630)
R148Q (p.Arg148Gln) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pseudo-TORCH syndrome 3; Primary immunodeficiency with post-measles-mumps-rubell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- rs1879360038
- ClinGen CA385263307
- cosmic curated COSV58474
- ClinVar RCV001156646
- Conflicting interpretations
- Pseudo-TORCH syndrome 3; Primary immunodeficiency with post-measles-mumps-rubell
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.25
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Pseudo-TORCH syndrome 3; Primary immunodeficiency with post-meas)
- EBI: Pathogenic (in PTORCH3)
- UniProt: Pathogenic (in PTORCH3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. (PMID 32092142)
- Cited in: Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. (PMID 31836668)