G588G (p.Gly588Gly) variant of UBE3A (Ubiquitin-protein ligase E3A)
G588G (p.Gly588Gly) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
G588G (p.Gly588Gly) variant details
- p.Gly588Gly
- gnomAD 15-25356895-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 13.10
- Population evidence available
- Literature evidence available