E52Q (p.Glu52Gln) variant of APOC3 (Apolipoprotein C-III)
E52Q (p.Glu52Gln) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- gnomAD 11-116830871-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.43
- CADD 21.50
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available