E7* (p.Glu7Ter) variant of ABCG8 (Q9H221)
E7* (p.Glu7Ter) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- gnomAD rs1244979430
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available