I39T (p.Ile39Thr) variant of SERPINC1 (Antithrombin-III)
I39T (p.Ile39Thr) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs121909558
- ClinGen CA343778339
- ClinVar RCV002074468
- Ensembl rs121909558
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.33
- MetaLR 0.67
- MetaSVM 0.43
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.45
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- 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)