Q2R (p.Gln2Arg) variant of F9 (Coagulation factor IX)
Q2R (p.Gln2Arg) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- gnomAD X-139530769-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.23
- MetaLR 0.34
- MetaSVM -0.65
- CADD 2.15
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available