N219D (p.Asn219Asp) variant of SERPINC1 (Antithrombin-III)
N219D (p.Asn219Asp) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N219D (p.Asn219Asp) variant details
- p.Asn219Asp
- rs121909571
- ClinGen CA210798
- ClinVar RCV000019658
- UniProt VAR 007059
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.90
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Population evidence available
- Structural context available
- Cited in: Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp). (PMID 7989582)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)