E4E (p.Glu4Glu) variant of F8 (Coagulation factor VIII)
E4E (p.Glu4Glu) in F8 (Coagulation factor VIII) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs2072869122
- gnomAD X-154882184-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 4.70
- Population evidence available
- Structural context available
- Literature evidence available