P439T (p.Pro439Thr) variant of SERPINC1 (Antithrombin-III)
P439T (p.Pro439Thr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P439T (p.Pro439Thr) variant details
- p.Pro439Thr
- rs1487411568
- ClinGen CA343772370
- cosmic curated COSV62930
- ClinVar RCV000852017
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.88
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.17
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the East Asian population (allele frequency 2.5e-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)