D53N (p.Asp53Asn) variant of APOE (Apolipoprotein E)
D53N (p.Asp53Asn) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs563571689
- gnomAD 19-44905923-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 8.81
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available