R5* (p.Arg5Ter) variant of F2 (Prothrombin)
R5* (p.Arg5Ter) in F2 (Prothrombin) 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 0.62 / 1. The record also includes population frequency data and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs775021214
- ClinGen CA380260043
- ClinVar RCV003627748
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available