E44D (p.Glu44Asp) variant of STAT1 (P42224)
E44D (p.Glu44Asp) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The record also includes structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- rs2125101106
- ClinGen CA349928148
- ClinVar RCV003796852
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available