R274Q (p.Arg274Gln) variant of STAT1 (P42224)
R274Q (p.Arg274Gln) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
R274Q (p.Arg274Gln) variant details
- p.Arg274Gln
- rs387906760
- ClinGen CA128928
- cosmic curated COSV61190
- ClinVar RCV000022988
- Pathogenic
- STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.33
- MetaLR 0.48
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.52
- ClinVar: Pathogenic (STAT1-related disorder; Mendelian susceptibility to mycobacteria)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (PMID 21727188)
- Cited in: STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant… (PMID 22195034)