E284G (p.Glu284Gly) variant of STAT1 (P42224)
E284G (p.Glu284Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
E284G (p.Glu284Gly) variant details
- p.Glu284Gly
- rs1693752801
- ClinGen CA349921895
- ClinVar RCV001239955
- Ensembl rs1693752801
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.45
- MetaLR 0.33
- MetaSVM -0.52
- PolyPhen-2 0.46
- SIFT 0.40
- EVE 0.34
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available