L14F (p.Leu14Phe) variant of F9 (Coagulation factor IX)
L14F (p.Leu14Phe) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD X-139530804-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.39
- MetaLR 0.77
- MetaSVM 0.09
- CADD 12.00
- PolyPhen-2 0.05
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available