G27A (p.Gly27Ala) variant of F8 (Coagulation factor VIII)
G27A (p.Gly27Ala) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- rs1272480942
- gnomAD X-154882158-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 3.83
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available