L441P (p.Leu441Pro) variant of SERPINC1 (Antithrombin-III)
L441P (p.Leu441Pro) 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 0.88 / 1. The record also includes published literature and structural context.
L441P (p.Leu441Pro) variant details
- p.Leu441Pro
- rs1188571702
- UniProt VAR 027473
- Ensembl rs1188571702
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. (PMID 12894857)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)