D593D (p.Asp593Asp) variant of UBE3A (Ubiquitin-protein ligase E3A)
D593D (p.Asp593Asp) in UBE3A (Ubiquitin-protein ligase E3A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
D593D (p.Asp593Asp) variant details
- p.Asp593Asp
- rs781556374
- gnomAD 15-25356880-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.60
- Population evidence available
- Literature evidence available