W131* (p.Trp131Ter) variant of F13A1 (Coagulation factor XIII A chain)
W131* (p.Trp131Ter) in F13A1 (Coagulation factor XIII A 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 0.86 / 1. The record also includes population frequency data and structural context.
W131* (p.Trp131Ter) variant details
- p.Trp131Ter
- rs932213198
- NCI-TCGA Cosmic COSV9934
- TOPMed rs932213198
- gnomAD rs932213198
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available