L55Q (p.Leu55Gln) variant of APOE (Apolipoprotein E)
L55Q (p.Leu55Gln) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L55Q (p.Leu55Gln) variant details
- p.Leu55Gln
- gnomAD 19-44907880-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available