E72Q (p.Glu72Gln) variant of APOA5 (Apolipoprotein A-V)
E72Q (p.Glu72Gln) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E72Q (p.Glu72Gln) variant details
- p.Glu72Gln
- gnomAD 11-116791111-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0889
- CADD 2.92
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available