D419H (p.Asp419His) variant of STAT6 (P42226)
D419H (p.Asp419His) in STAT6 (P42226) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
D419H (p.Asp419His) variant details
- p.Asp419His
- rs11172102
- ClinGen CA385395237
- ClinVar RCV003333718
- ClinVar RCV004673874
- Likely pathogenic
- Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.97
- MetaLR 0.35
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.20
- ClinVar: Likely 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: Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma. (PMID 37316763)