T427I (p.Thr427Ile) variant of STAT1 (P42224)
T427I (p.Thr427Ile) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The record also includes structural context.
T427I (p.Thr427Ile) variant details
- p.Thr427Ile
- Ensembl rs1692621311
- Pathogenic/Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available