E563V (p.Glu563Val) variant of STAT1 (P42224)
E563V (p.Glu563Val) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The record also includes structural context.
E563V (p.Glu563Val) variant details
- p.Glu563Val
- rs2470432266
- ClinGen CA349914176
- ClinVar RCV003798738
- Pathogenic
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- ClinVar: Pathogenic (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available