E82Q (p.Glu82Gln) variant of SERPINC1 (Antithrombin-III)
E82Q (p.Glu82Gln) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E82Q (p.Glu82Gln) variant details
- p.Glu82Gln
- TOPMed rs1557904209
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available