P78L (p.Pro78Leu) variant of F5 (Coagulation factor V)
P78L (p.Pro78Leu) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- TOPMed rs751483774
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available