A28G (p.Ala28Gly) variant of F5 (Coagulation factor V)
A28G (p.Ala28Gly) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- ExAC rs753979908
- TOPMed rs753979908
- gnomAD rs753979908
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.44
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available