C17F (p.Cys17Phe) variant of F8 (Coagulation factor VIII)
C17F (p.Cys17Phe) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C17F (p.Cys17Phe) variant details
- p.Cys17Phe
- gnomAD X-154882119-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 3.73
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available