F434C (p.Phe434Cys) variant of SERPINC1 (Antithrombin-III)
F434C (p.Phe434Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F434C (p.Phe434Cys) variant details
- p.Phe434Cys
- rs1572084546
- ClinGen CA343772451
- ClinVar RCV000852011
- UniProt VAR 007078
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Structural context available
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)