F434L (p.Phe434Leu) variant of SERPINC1 (Antithrombin-III)
F434L (p.Phe434Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F434L (p.Phe434Leu) variant details
- p.Phe434Leu
- rs2526542785
- ClinGen CA343772447
- ClinVar RCV002648222
- UniProt VAR 007080
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.78
- MetaLR 0.68
- MetaSVM 0.31
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)