L23R (p.Leu23Arg) variant of F9 (Coagulation factor IX)
L23R (p.Leu23Arg) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- gnomAD X-139530832-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.70
- MetaLR 0.82
- MetaSVM 0.99
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available