R15C (p.Arg15Cys) variant of F8 (Coagulation factor VIII)
R15C (p.Arg15Cys) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs1301384640
- gnomAD X-154882165-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0705
- CADD 3.73
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available
- Literature evidence available