S124* (p.Ser124Ter) variant of F13A1 (Coagulation factor XIII A chain)
S124* (p.Ser124Ter) 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 0.53 / 1. The record also includes population frequency data and structural context.
S124* (p.Ser124Ter) variant details
- p.Ser124Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available