E4K (p.Glu4Lys) variant of F8 (Coagulation factor VIII)
E4K (p.Glu4Lys) 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.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD X-154882192-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.07
- CADD 2.20
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Literature evidence available