E82K (p.Glu82Lys) variant of SERPINC1 (Antithrombin-III)
E82K (p.Glu82Lys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- TOPMed rs1557904209
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.69
- AlphaMissense 0.87
- MetaLR 0.65
- MetaSVM 0.16
- CADD 27.70
- PolyPhen-2 0.98
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available