R56C (p.Arg56Cys) variant of SERPINC1 (Antithrombin-III)
R56C (p.Arg56Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs28929469
- ClinGen CA210772
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Pathogenic/Likely pathogenic
- not provided; Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. (PMID 2365065)
- Cited in: Proposed heparin binding site in antithrombin based on arginine 47. A new variant Rouen-II, 47 Arg to Ser. (PMID 3350974)