L60F (p.Leu60Phe) variant of F9 (Coagulation factor IX)
L60F (p.Leu60Phe) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- gnomAD X-139537099-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.86
- MetaLR 0.99
- MetaSVM 0.91
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available