P439A (p.Pro439Ala) variant of SERPINC1 (Antithrombin-III)
P439A (p.Pro439Ala) 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 0.90 / 1. The record also includes published literature and structural context.
P439A (p.Pro439Ala) variant details
- p.Pro439Ala
- rs1487411568
- ClinGen CA343772367
- ClinVar RCV001231167
- UniProt VAR 071206
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. (PMID 23910795)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)