A99E (p.Ala99Glu) variant of SERPINC1 (Antithrombin-III)
A99E (p.Ala99Glu) 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 0.74 / 1. The record also includes published literature and structural context.
A99E (p.Ala99Glu) variant details
- p.Ala99Glu
- rs2102789784
- ClinGen CA343777610
- cosmic curated COSV10890
- ClinVar RCV001885486
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.66
- MetaLR 0.77
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.54
- 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)