C5G (p.Cys5Gly) variant of F5 (Coagulation factor V)
C5G (p.Cys5Gly) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C5G (p.Cys5Gly) variant details
- p.Cys5Gly
- TOPMed rs1415199023
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.63
- CADD 15.70
- PolyPhen-2 0.34
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available