R15L (p.Arg15Leu) variant of F8 (Coagulation factor VIII)
R15L (p.Arg15Leu) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD X-154882164-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 3.36
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available