A75T (p.Ala75Thr) variant of SERPINC1 (Antithrombin-III)
A75T (p.Ala75Thr) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- rs1297895835
- ClinGen CA343777896
- ClinVar RCV002821497
- ClinVar RCV004732497
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)