R337Q (p.Arg337Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
R337Q (p.Arg337Gln) 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 0.36 / 1. The record also includes population frequency data and published literature.
R337Q (p.Arg337Gln) variant details
- p.Arg337Gln
- rs1384065874
- ClinGen CA391354589
- ClinVar RCV003509951
- ClinVar RCV004676234
- Uncertain significance
- Inborn genetic diseases; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.14
- MetaLR 0.08
- MetaSVM -1.13
- PolyPhen-2 1.00
- SIFT 0.24
- EVE 0.41
- 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)