G384D (p.Gly384Asp) variant of STAT1 (P42224)
G384D (p.Gly384Asp) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.86 / 1. The record also includes published literature and structural context.
G384D (p.Gly384Asp) variant details
- p.Gly384Asp
- rs796065052
- ClinGen CA204368
- ClinVar RCV000190350
- UniProt VAR 075498
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired… (PMID 25288569)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)