C40R (p.Cys40Arg) variant of SERPINC1 (Antithrombin-III)
C40R (p.Cys40Arg) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of 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 and structural context.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- TOPMed rs1307013919
- gnomAD rs1307013919
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.83
- CADD 27.20
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available