R146* (p.Arg146Ter) variant of F5 (Coagulation factor V)
R146* (p.Arg146Ter) 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 0.58 / 1. The record also includes population frequency data and structural context.
R146* (p.Arg146Ter) variant details
- p.Arg146Ter
- rs767477438
- ClinGen CA1234608
- ClinVar RCV003764221
- ExAC rs767477438
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available