Y705C (p.Tyr705Cys) variant of STAT3 (P40763)
Y705C (p.Tyr705Cys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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.
Y705C (p.Tyr705Cys) variant details
- p.Tyr705Cys
- rs2509118228
- ClinGen CA399580238
- ClinVar RCV003041301
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)