D53E (p.Asp53Glu) variant of APOE (Apolipoprotein E)
D53E (p.Asp53Glu) 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.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- gnomAD 19-44905901-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available