Y45H (p.Tyr45His) variant of F5 (Coagulation factor V)
Y45H (p.Tyr45His) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y45H (p.Tyr45His) variant details
- p.Tyr45His
- ExAC rs746723635
- gnomAD rs746723635
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.84
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available