E594* (p.Glu594Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
E594* (p.Glu594Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
E594* (p.Glu594Ter) variant details
- p.Glu594Ter
- gnomAD 15-25356879-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 41.00
- Population evidence available
- Literature evidence available