Q2E (p.Gln2Glu) variant of F8 (Coagulation factor VIII)
Q2E (p.Gln2Glu) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q2E (p.Gln2Glu) variant details
- p.Gln2Glu
- rs2072892935
- gnomAD X-154886148-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- MetaLR 0.74
- MetaSVM -0.05
- CADD 6.91
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available