A416S (p.Ala416Ser) variant of SERPINC1 (Antithrombin-III)
A416S (p.Ala416Ser) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A416S (p.Ala416Ser) variant details
- p.Ala416Ser
- rs121909548
- ClinGen CA211880
- cosmic curated COSV10820
- ClinVar RCV000019639
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.67
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.82
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory… (PMID 1906811)
- Cited in: The incidence of dysfunctional antithrombin variants: four cases in 210 patients with thromboembolic disease. (PMID 2012760)