E54* (p.Glu54Ter) variant of F10 (Coagulation factor X)
E54* (p.Glu54Ter) in F10 (Coagulation factor X) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in FA10D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- TOPMed rs121964939
- Likely pathogenic
- in FA10D
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 36.00
- EBI: Likely pathogenic (in FA10D)
- UniProt: Likely pathogenic (in FA10D)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available