G736D (p.Gly736Asp) variant of UBE3A (Ubiquitin-protein ligase E3A)
G736D (p.Gly736Asp) 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 0.98 / 1.
G736D (p.Gly736Asp) variant details
- p.Gly736Asp
- rs1595572384
- ClinGen CA391351789
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99216
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic