R89C (p.Arg89Cys) variant of SERPINC1 (Antithrombin-III)
R89C (p.Arg89Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs147266200
- UniProt VAR 007041
- 1000Genomes rs147266200
- ExAC rs147266200
- Pathogenic
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.70
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)