E21D (p.Glu21Asp) variant of APOE (Apolipoprotein E)
E21D (p.Glu21Asp) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- gnomAD 19-44907779-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.15
- CADD 13.90
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available