T387A (p.Thr387Ala) variant of STAT1 (P42224)
T387A (p.Thr387Ala) 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.
T387A (p.Thr387Ala) variant details
- p.Thr387Ala
- rs2470465465
- ClinGen CA349919112
- ClinVar RCV002651583
- Pathogenic
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- ClinVar: Pathogenic (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available