Q37Q (p.Gln37Gln) variant of F8 (Coagulation factor VIII)
Q37Q (p.Gln37Gln) in F8 (Coagulation factor VIII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q37Q (p.Gln37Gln) variant details
- p.Gln37Gln
- rs2072867149
- gnomAD X-154882037-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 13.50
- Population evidence available
- Structural context available
- Literature evidence available