E594Q (p.Glu594Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
E594Q (p.Glu594Gln) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
E594Q (p.Glu594Gln) variant details
- p.Glu594Gln
- rs757922956
- gnomAD 15-25356879-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 22.40
- PolyPhen-2 0.26
- SIFT 0.14
- Population evidence available
- Literature evidence available