E272Q (p.Glu272Gln) variant of FAS (P25445)
E272Q (p.Glu272Gln) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The record also includes published literature and structural context.
E272Q (p.Glu272Gln) variant details
- p.Glu272Gln
- rs2495226256
- ClinGen CA377509871
- ClinVar RCV003011781
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic (in ALPS1A)
- UniProt: Likely pathogenic (in ALPS1A)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)