R279Q (p.Arg279Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
R279Q (p.Arg279Gln) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and published literature.
R279Q (p.Arg279Gln) variant details
- p.Arg279Gln
- rs200496882
- ClinGen CA7435585
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51663
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.02
- SIFT 0.59
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)