I262M (p.Ile262Met) variant of FAS (P25445)
I262M (p.Ile262Met) in FAS (P25445) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The record also includes structural context.
I262M (p.Ile262Met) variant details
- p.Ile262Met
- cosmic curated COSV10057
- Ensembl rs2119446066
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available