M284R (p.Met284Arg) variant of SERPINC1 (Antithrombin-III)
M284R (p.Met284Arg) 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 0.91 / 1. The record also includes published literature and structural context.
M284R (p.Met284Arg) variant details
- p.Met284Arg
- rs1572088737
- ClinGen CA343774540
- ClinVar RCV002245318
- Ensembl rs1572088737
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.88
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- 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)