D65G (p.Asp65Gly) variant of STAT1 (P42224)
D65G (p.Asp65Gly) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The record also includes structural context.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- rs2470565379
- ClinGen CA349928014
- ClinVar RCV002824209
- Conflicting interpretations
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available