I18M (p.Ile18Met) variant of AIRE (Autoimmune regulator)
I18M (p.Ile18Met) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The record also includes structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- rs2517875605
- ClinGen CA410423013
- ClinVar RCV002894335
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available