E545K (p.Glu545Lys) variant of STAT1 (P42224)
E545K (p.Glu545Lys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar 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.
E545K (p.Glu545Lys) variant details
- p.Glu545Lys
- cosmic curated COSV63117
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- UniProt: Likely pathogenic
- Structural context available