D53V (p.Asp53Val) variant of APOE (Apolipoprotein E)
D53V (p.Asp53Val) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- Ensembl rs1969838529
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available