G568R (p.Gly568Arg) variant of UBE3A (Ubiquitin-protein ligase E3A)
G568R (p.Gly568Arg) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
G568R (p.Gly568Arg) variant details
- p.Gly568Arg
- rs587781233
- ClinGen CA333366
- ClinVar RCV000144309
- ClinVar RCV000622521
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- 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)