R274W (p.Arg274Trp) variant of STAT1 (P42224)
R274W (p.Arg274Trp) 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 0.62 / 1. The record also includes published literature and structural context.
R274W (p.Arg274Trp) variant details
- p.Arg274Trp
- rs387906758
- ClinGen CA128924
- ClinVar RCV000022986
- ClinVar RCV000688972
- Pathogenic
- STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.53
- MetaLR 0.56
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.60
- ClinVar: Pathogenic (STAT1-related disorder; Mendelian susceptibility to mycobacteria)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)
- Cited in: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (PMID 21727188)