E148* (p.Glu148Ter) variant of F12 (Coagulation factor XII)
E148* (p.Glu148Ter) in F12 (Coagulation factor XII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E148* (p.Glu148Ter) variant details
- p.Glu148Ter
- ExAC rs761290517
- TOPMed rs761290517
- gnomAD rs761290517
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 3.5e-05)
- Structural context available