L23P (p.Leu23Pro) variant of SERPINC1 (Antithrombin-III)
L23P (p.Leu23Pro) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AT3D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- rs387906575
- ClinGen CA210793
- ClinVar RCV000019656
- UniProt VAR 012748
- Pathogenic
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.25
- MetaLR 0.63
- MetaSVM 0.40
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.67
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)
- Cited in: Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. (PMID 9845533)