T122N (p.Thr122Asn) variant of SERPINC1 (Antithrombin-III)
T122N (p.Thr122Asn) 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 0.51 / 1. The record also includes published literature and structural context.
T122N (p.Thr122Asn) variant details
- p.Thr122Asn
- rs1253864431
- ClinGen CA343777345
- ClinVar RCV002245322
- gnomAD rs1253864431
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.68
- MetaLR 0.49
- MetaSVM -0.27
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.39
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)