C118Y (p.Cys118Tyr) variant of F13B (Coagulation factor XIII B chain)
C118Y (p.Cys118Tyr) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C118Y (p.Cys118Tyr) variant details
- p.Cys118Tyr
- gnomAD rs1159732571
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.84
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available