Y148* (p.Tyr148Ter) variant of F5 (Coagulation factor V)
Y148* (p.Tyr148Ter) in F5 (Coagulation factor V) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y148* (p.Tyr148Ter) variant details
- p.Tyr148Ter
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available