D519H (p.Asp519His) variant of STAT6 (P42226)
D519H (p.Asp519His) in STAT6 (P42226) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections. The record also includes published literature and structural context.
D519H (p.Asp519His) variant details
- p.Asp519His
- rs2548019791
- cosmic curated COSV55666
- ClinGen CA385427840
- ClinVar RCV003333720
- Pathogenic
- Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
- Missense
- ClinVar: Pathogenic (Hyper-IgE syndrome 6, autosomal dominant, with recurrent infecti)
- EBI: Pathogenic (in HIES6)
- UniProt: Pathogenic (in HIES6)
- Structural context available
- Cited in: Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. (PMID 36884218)
- Cited in: Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6. (PMID 36758835)