V713L (p.Val713Leu) variant of STAT3 (P40763)
V713L (p.Val713Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
V713L (p.Val713Leu) variant details
- p.Val713Leu
- rs2509117897
- ClinGen CA399580184
- ClinVar RCV003797364
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- ClinVar: Pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)