E27A (p.Glu27Ala) variant of APOE (Apolipoprotein E)
E27A (p.Glu27Ala) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- gnomAD 19-44907793-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available