Q150P (p.Gln150Pro) variant of SERPINC1 (Antithrombin-III)
Q150P (p.Gln150Pro) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q150P (p.Gln150Pro) variant details
- p.Gln150Pro
- rs765445413
- ClinGen CA1251409
- ClinVar RCV000810125
- ClinVar RCV002284206
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.86
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the REMAINING population (allele frequency 1.7e-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)