E42Q (p.Glu42Gln) variant of F8 (Coagulation factor VIII)
E42Q (p.Glu42Gln) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E42Q (p.Glu42Gln) variant details
- p.Glu42Gln
- gnomAD rs1557287578
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.34
- MetaLR 0.86
- MetaSVM 0.35
- CADD 10.40
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available