D53D (p.Asp53Asp) variant of APOE (Apolipoprotein E)
D53D (p.Asp53Asp) in APOE (Apolipoprotein E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D53D (p.Asp53Asp) variant details
- p.Asp53Asp
- gnomAD 19-44905901-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 11.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available