R148W (p.Arg148Trp) variant of STAT2 (P52630)
R148W (p.Arg148Trp) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudo-TORCH syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R148W (p.Arg148Trp) variant details
- p.Arg148Trp
- rs1458224681
- ClinGen CA385263308
- cosmic curated COSV58477
- ClinVar RCV001249565
- Pathogenic
- Pseudo-TORCH syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Pseudo-TORCH syndrome 3)
- EBI: Pathogenic (in PTORCH3)
- UniProt: Pathogenic (in PTORCH3)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. (PMID 31836668)
- Cited in: Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. (PMID 32092142)