R79S (p.Arg79Ser) variant of SERPINC1 (Antithrombin-III)
R79S (p.Arg79Ser) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- rs121909547
- ClinGen CA210760
- ClinVar RCV000019631
- UniProt VAR 007039
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. (PMID 2365065)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)