A91V (p.Ala91Val) variant of SERPINC1 (Antithrombin-III)
A91V (p.Ala91Val) 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 record also includes published literature and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- rs2526594923
- NCI-TCGA Cosmic COSV6293
- cosmic curated COSV62930
- ClinGen CA343777700
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)