K146E (p.Lys146Glu) variant of SERPINC1 (Antithrombin-III)
K146E (p.Lys146Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K146E (p.Lys146Glu) variant details
- p.Lys146Glu
- rs1170430756
- ClinGen CA343776822
- ClinVar RCV001801322
- UniProt VAR 027456
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.63
- CADD 26.90
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. (PMID 12353073)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)