P318L (p.Pro318Leu) variant of SERPINC1 (Antithrombin-III)
P318L (p.Pro318Leu) 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 0.89 / 1. The record also includes published literature and structural context.
P318L (p.Pro318Leu) variant details
- p.Pro318Leu
- rs1460568494
- ClinGen CA343774114
- ClinVar RCV000851915
- ClinVar RCV004792443
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)