E10Q (p.Glu10Gln) variant of F9 (Coagulation factor IX)
E10Q (p.Glu10Gln) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- gnomAD X-139530792-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- MetaLR 0.59
- MetaSVM -0.35
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available