N584S (p.Asn584Ser) variant of UBE3A (Ubiquitin-protein ligase E3A)
N584S (p.Asn584Ser) 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 0.64 / 1. The record also includes published literature.
N584S (p.Asn584Ser) variant details
- p.Asn584Ser
- rs587784517
- ClinGen CA333531
- ClinVar RCV000147869
- Ensembl rs587784517
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.23
- MetaLR 0.69
- MetaSVM 0.45
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)