S426L (p.Ser426Leu) variant of SERPINC1 (Antithrombin-III)
S426L (p.Ser426Leu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S426L (p.Ser426Leu) variant details
- p.Ser426Leu
- rs121909550
- ClinGen CA210754
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62928
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.88
- MetaLR 0.75
- MetaSVM 0.39
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: 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: Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and… (PMID 15164384)
- Cited in: Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. (PMID 1555650)