G25D (p.Gly25Asp) variant of SERPINC1 (Antithrombin-III)
G25D (p.Gly25Asp) 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 0.57 / 1. The record also includes published literature and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs1657927385
- ClinGen CA343778502
- ClinVar RCV003389114
- TOPMed rs1657927385
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.32
- MetaLR 0.56
- MetaSVM 0.25
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.67
- 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)