E17* (p.Glu17Ter) variant of F13B (Coagulation factor XIII B chain)
E17* (p.Glu17Ter) in F13B (Coagulation factor XIII B chain) 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 0.41 / 1. The record also includes population frequency data and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- NCI-TCGA Cosmic COSV6637
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 33.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available