Y190C (p.Tyr190Cys) variant of SERPINC1 (Antithrombin-III)
Y190C (p.Tyr190Cys) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y190C (p.Tyr190Cys) variant details
- p.Tyr190Cys
- UniProt VAR 007055
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.80
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. (PMID 7959685)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)