S214Y (p.Ser214Tyr) variant of SERPINC1 (Antithrombin-III)
S214Y (p.Ser214Tyr) 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 0.81 / 1. The record also includes published literature and structural context.
S214Y (p.Ser214Tyr) variant details
- p.Ser214Tyr
- rs483352854
- ClinGen CA150697
- ClinVar RCV000087290
- ClinVar RCV002514538
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.67
- MetaLR 0.83
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Molecular genetics of human antithrombin deficiency. (PMID 8664906)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)