S52* (p.Ser52Ter) variant of F5 (Coagulation factor V)
S52* (p.Ser52Ter) 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 0.31 / 1. The record also includes population frequency data and structural context.
S52* (p.Ser52Ter) variant details
- p.Ser52Ter
- rs779040384
- ClinGen CA1234730
- ClinVar RCV003763615
- ExAC rs779040384
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available