F51V (p.Phe51Val) variant of APOE (Apolipoprotein E)
F51V (p.Phe51Val) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F51V (p.Phe51Val) variant details
- p.Phe51Val
- gnomAD 19-44907867-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.91
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available