p.Arg43 Ala47del variant of APOE (Apolipoprotein E)

Name: APOE p.Arg43 Ala47del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

p.Arg43 Ala47del in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.

p.Arg43 Ala47del variant details

rs768374191
gnomAD 19-44907842-GCGCT
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.394
CADD 17.90
Most common in the African/African-American population (allele frequency 2.8e-05)
Structural context available
Literature evidence available