F404V (p.Phe404Val) variant of STAT1 (P42224)
F404V (p.Phe404Val) 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.
F404V (p.Phe404Val) variant details
- p.Phe404Val
- rs2470465165
- ClinGen CA349918822
- ClinVar RCV002466305
- 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