N437K (p.Asn437Lys) variant of SERPINC1 (Antithrombin-III)
N437K (p.Asn437Lys) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
N437K (p.Asn437Lys) variant details
- p.Asn437Lys
- rs1301351856
- ClinGen CA343772391
- ClinVar RCV003527184
- ClinVar RCV006276359
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.68
- MetaLR 0.71
- MetaSVM 0.38
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)