Y592Y (p.Tyr592Tyr) variant of UBE3A (Ubiquitin-protein ligase E3A)
Y592Y (p.Tyr592Tyr) in UBE3A (Ubiquitin-protein ligase E3A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
Y592Y (p.Tyr592Tyr) variant details
- p.Tyr592Tyr
- rs139082033
- gnomAD 15-25356883-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.05
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- Literature evidence available