Y95S (p.Tyr95Ser) variant of SERPINC1 (Antithrombin-III)
Y95S (p.Tyr95Ser) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AT3D. The record also includes published literature and structural context.
Y95S (p.Tyr95Ser) variant details
- p.Tyr95Ser
- UniProt VAR 012316
- Pathogenic
- in AT3D
- Missense
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. (PMID 7994035)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)