G4S (p.Gly4Ser) variant of F5 (Coagulation factor V)
G4S (p.Gly4Ser) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- TOPMed rs1661104919
- gnomAD rs1661104919
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.30
- CADD 10.50
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available