E607Q (p.Glu607Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
E607Q (p.Glu607Gln) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature.
E607Q (p.Glu607Gln) variant details
- p.Glu607Gln
- rs587781235
- ClinGen CA333372
- ClinVar RCV000144311
- UniProt VAR 073211
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.95
- MetaLR 0.49
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Angelman syndrome)
- EBI: Pathogenic (in AS)
- UniProt: Pathogenic (in AS)
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)