F51L (p.Phe51Leu) variant of F12 (Coagulation factor XII)
F51L (p.Phe51Leu) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- ESP rs138588996
- ExAC rs138588996
- TOPMed rs138588996
- gnomAD rs138588996
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.71
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available