D53A (p.Asp53Ala) variant of APOE (Apolipoprotein E)
D53A (p.Asp53Ala) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D53A (p.Asp53Ala) variant details
- p.Asp53Ala
- gnomAD 19-44905900-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 10.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available