E52D (p.Glu52Asp) variant of APOC3 (Apolipoprotein C-III)
E52D (p.Glu52Asp) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD rs1455467781
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.45
- CADD 14.20
- PolyPhen-2 0.91
- SIFT 0.19
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available