Y95H (p.Tyr95His) variant of SERPINC1 (Antithrombin-III)
Y95H (p.Tyr95His) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
Y95H (p.Tyr95His) variant details
- p.Tyr95His
- rs1657913203
- ClinGen CA343777661
- ClinVar RCV001298024
- Ensembl rs1657913203
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.82
- MetaLR 0.78
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Likely pathogenic (in AT3D)
- UniProt: Likely pathogenic (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)