E82* (p.Glu82Ter) variant of SERPINC1 (Antithrombin-III)
E82* (p.Glu82Ter) 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 0.58 / 1. The record also includes structural context.
E82* (p.Glu82Ter) variant details
- p.Glu82Ter
- rs1557904209
- ClinGen CA343777805
- ClinVar RCV000761687
- TOPMed rs1557904209
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.87
- MetaLR 0.65
- MetaSVM 0.16
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.36
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available