R15Q (p.Arg15Gln) variant of F8 (Coagulation factor VIII)
R15Q (p.Arg15Gln) 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 and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- ExAC rs782417067
- gnomAD rs782417067
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.29
- MetaLR 0.77
- MetaSVM 0.43
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available