G27E (p.Gly27Glu) variant of F8 (Coagulation factor VIII)
G27E (p.Gly27Glu) 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, published literature, and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs2072868611
- gnomAD X-154882155-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 4.40
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available