G49D (p.Gly49Asp) variant of APOE (Apolipoprotein E)
G49D (p.Gly49Asp) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- Ensembl rs1599952025
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.45
- CADD 13.40
- PolyPhen-2 0.29
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available