C53* (p.Cys53Ter) variant of SERPINC1 (Antithrombin-III)
C53* (p.Cys53Ter) in SERPINC1 (Antithrombin-III) is a protein-truncating 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 0.46 / 1. The record also includes population frequency data and structural context.
C53* (p.Cys53Ter) variant details
- p.Cys53Ter
- rs1572092099
- ClinGen CA343778180
- ClinVar RCV000852038
- ClinVar RCV004792444
- Pathogenic
- in AT3D
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 34.00
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available