F34L (p.Phe34Leu) variant of F5 (Coagulation factor V)
F34L (p.Phe34Leu) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- Ensembl rs1661102544
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.76
- CADD 24.50
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available