E227K (p.Glu227Lys) variant of SERPINC1 (Antithrombin-III)
E227K (p.Glu227Lys) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E227K (p.Glu227Lys) variant details
- p.Glu227Lys
- rs1572089542
- ClinGen CA343775569
- ClinVar RCV003877717
- TOPMed rs1572089542
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.48
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.35
- CADD 21.90
- PolyPhen-2 0.94
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)