C59S (p.Cys59Ser) variant of FAS (P25445)
C59S (p.Cys59Ser) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 1. The record also includes published literature and structural context.
C59S (p.Cys59Ser) variant details
- p.Cys59Ser
- rs2495023352
- ClinGen CA377507726
- ClinVar RCV003517617
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)