T591T (p.Thr591Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)
T591T (p.Thr591Thr) in UBE3A (Ubiquitin-protein ligase E3A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and published literature.
T591T (p.Thr591Thr) variant details
- p.Thr591Thr
- rs770078054
- gnomAD 15-25356886-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 7.39
- Population evidence available
- Literature evidence available