Q133K (p.Gln133Lys) variant of SERPINC1 (Antithrombin-III)
Q133K (p.Gln133Lys) in SERPINC1 (Antithrombin-III) is a missense 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q133K (p.Gln133Lys) variant details
- p.Gln133Lys
- rs1411331203
- UniProt VAR 007047
- gnomAD rs1411331203
- Pathogenic
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.83
- CADD 24.70
- 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)