Y108C (p.Tyr108Cys) variant of F13B (Coagulation factor XIII B chain)
Y108C (p.Tyr108Cys) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y108C (p.Tyr108Cys) variant details
- p.Tyr108Cys
- rs759690063
- ExAC rs759690063
- TOPMed rs759690063
- gnomAD rs759690063
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.60
- CADD 24.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available