C18C (p.Cys18Cys) variant of F9 (Coagulation factor IX)
C18C (p.Cys18Cys) in F9 (Coagulation factor IX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C18C (p.Cys18Cys) variant details
- p.Cys18Cys
- rs1337284408
- gnomAD X-139530818-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 9.90
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available