A18P (p.Ala18Pro) variant of APOE (Apolipoprotein E)
A18P (p.Ala18Pro) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- 1000Genomes rs533904656
- ExAC rs533904656
- TOPMed rs533904656
- gnomAD rs533904656
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.62
- CADD 24.90
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available