R161Q (p.Arg161Gln) variant of SERPINC1 (Antithrombin-III)
R161Q (p.Arg161Gln) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R161Q (p.Arg161Gln) variant details
- p.Arg161Gln
- rs121909563
- ClinGen CA210779
- ClinVar RCV000019646
- ClinVar RCV006277656
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.69
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.10
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Cited in: Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine… (PMID 2229057)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)