E594E (p.Glu594Glu) variant of UBE3A (Ubiquitin-protein ligase E3A)
E594E (p.Glu594Glu) in UBE3A (Ubiquitin-protein ligase E3A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
E594E (p.Glu594Glu) variant details
- p.Glu594Glu
- rs34670662
- gnomAD 15-25356877-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 8.63
- Population evidence available
- Literature evidence available