P461L (p.Pro461Leu) variant of SERPINC1 (Antithrombin-III)
P461L (p.Pro461Leu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P461L (p.Pro461Leu) variant details
- p.Pro461Leu
- rs121909564
- ClinGen CA210781
- ClinVar RCV000019647
- UniProt VAR 007091
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- MetaLR 0.92
- MetaSVM 1.05
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. (PMID 8476848)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)