R440Q (p.Arg440Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
R440Q (p.Arg440Gln) 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 0.47 / 1. The record also includes population frequency data and published literature.
R440Q (p.Arg440Gln) variant details
- p.Arg440Gln
- rs765813410
- ClinGen CA7435542
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51667
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.13
- MetaLR 0.45
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.41
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)