Q133H (p.Gln133His) variant of SERPINC1 (Antithrombin-III)
Q133H (p.Gln133His) 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 0.59 / 1. The record also includes published literature and structural context.
Q133H (p.Gln133His) variant details
- p.Gln133His
- rs878854019
- ClinGen CA10581758
- ClinVar RCV000226993
- Ensembl rs878854019
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.84
- MetaLR 0.53
- MetaSVM 0.15
- PolyPhen-2 0.53
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (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)