E24Q (p.Glu24Gln) variant of APOC3 (Apolipoprotein C-III)
E24Q (p.Glu24Gln) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- gnomAD 11-116830787-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.30
- CADD 19.10
- PolyPhen-2 0.41
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available