E64* (p.Glu64Ter) variant of SERPINC1 (Antithrombin-III)
E64* (p.Glu64Ter) in SERPINC1 (Antithrombin-III) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E64* (p.Glu64Ter) variant details
- p.Glu64Ter
- rs2526595830
- ClinGen CA2649174715
- ClinVar RCV003944099
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 25.40
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available