Y95C (p.Tyr95Cys) variant of SERPINC1 (Antithrombin-III)
Y95C (p.Tyr95Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y95C (p.Tyr95Cys) variant details
- p.Tyr95Cys
- rs907768931
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62929
- UniProt VAR 027452
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- CADD 29.00
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)