R425C (p.Arg425Cys) variant of SERPINC1 (Antithrombin-III)
R425C (p.Arg425Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R425C (p.Arg425Cys) variant details
- p.Arg425Cys
- rs121909554
- ClinGen CA210762
- ClinVar RCV000019632
- UniProt VAR 007075
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.86
- MetaLR 0.73
- MetaSVM 0.52
- CADD 29.80
- SIFT 0.06
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. (PMID 12894857)
- Cited in: Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and… (PMID 15164384)