S223P (p.Ser223Pro) variant of SERPINC1 (Antithrombin-III)
S223P (p.Ser223Pro) 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 0.72 / 1. The record also includes published literature and structural context.
S223P (p.Ser223Pro) variant details
- p.Ser223Pro
- rs121909572
- ClinGen CA210800
- ClinVar RCV000019659
- UniProt VAR 027463
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.91
- MetaLR 0.69
- MetaSVM 0.59
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.57
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)
- Cited in: Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. (PMID 11713457)