S426W (p.Ser426Trp) variant of SERPINC1 (Antithrombin-III)
S426W (p.Ser426Trp) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S426W (p.Ser426Trp) variant details
- p.Ser426Trp
- rs121909550
- ClinGen CA343772578
- ClinVar RCV001908898
- TOPMed rs121909550
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.90
- MetaLR 0.85
- MetaSVM 0.92
- CADD 28.40
- SIFT 0.01
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)