R359Q (p.Arg359Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
R359Q (p.Arg359Gln) 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 Inborn genetic diseases; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
R359Q (p.Arg359Gln) variant details
- p.Arg359Gln
- rs780050034
- ClinGen CA7435565
- NCI-TCGA Cosmic COSV5166
- Uncertain significance
- Inborn genetic diseases; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.03
- PolyPhen-2 0.87
- SIFT 0.55
- EVE 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; 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)