I386T (p.Ile386Thr) variant of SERPINC1 (Antithrombin-III)
I386T (p.Ile386Thr) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I386T (p.Ile386Thr) variant details
- p.Ile386Thr
- rs1449772752
- ClinGen CA343772853
- ClinVar RCV001070670
- ClinVar RCV006450864
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.75
- MetaLR 0.83
- MetaSVM 0.91
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)