D157N (p.Asp157Asn) variant of STAT3 (P40763)
D157N (p.Asp157Asn) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The record also includes published literature and structural context.
D157N (p.Asp157Asn) variant details
- p.Asp157Asn
- rs2509448109
- ClinGen CA399594892
- ClinVar RCV002301443
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)