E147* (p.Glu147Ter) variant of F5 (Coagulation factor V)
E147* (p.Glu147Ter) in F5 (Coagulation factor V) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E147* (p.Glu147Ter) variant details
- p.Glu147Ter
- rs118203912
- ClinGen CA251548
- ClinVar RCV000000679
- Ensembl rs118203912
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. (PMID 14617013)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)