Y356D (p.Tyr356Asp) variant of STAT1 (P42224)
Y356D (p.Tyr356Asp) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The record also includes structural context.
Y356D (p.Tyr356Asp) variant details
- p.Tyr356Asp
- rs2470477597
- ClinGen CA349919972
- ClinVar RCV003482195
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available