Q285R (p.Gln285Arg) variant of STAT1 (P42224)
Q285R (p.Gln285Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
Q285R (p.Gln285Arg) variant details
- p.Gln285Arg
- rs587777629
- ClinGen CA170569
- ClinVar RCV000133514
- UniProt VAR 075496
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.17
- MetaLR 0.27
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.55
- EVE 0.18
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and… (PMID 23709754)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)