Q167H (p.Gln167His) variant of STAT1 (P42224)
Q167H (p.Gln167His) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The record also includes structural context.
Q167H (p.Gln167His) variant details
- p.Gln167His
- rs1167103580
- ClinGen CA349924427
- ClinVar RCV003140429
- Uncertain significance
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- ClinVar: Uncertain significance (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available