Y37* (p.Tyr37Ter) variant of ABCG8 (Q9H221)
Y37* (p.Tyr37Ter) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y37* (p.Tyr37Ter) variant details
- p.Tyr37Ter
- gnomAD 2-43844554-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available