E72G (p.Glu72Gly) variant of APOA5 (Apolipoprotein A-V)
E72G (p.Glu72Gly) in APOA5 (Apolipoprotein A-V) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E72G (p.Glu72Gly) variant details
- p.Glu72Gly
- gnomAD 11-116791108-CCT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 2.66
- Population evidence available
- Structural context available
- Literature evidence available