N293T (p.Asn293Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)
N293T (p.Asn293Thr) 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 0.38 / 1. The record also includes published literature.
N293T (p.Asn293Thr) variant details
- p.Asn293Thr
- rs587782908
- ClinGen CA333409
- ClinVar RCV000144324
- UniProt VAR 073203
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.94
- MetaLR 0.08
- MetaSVM -1.12
- PolyPhen-2 1.00
- SIFT 0.41
- EVE 0.53
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Benign
- UniProt: Benign
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Angelman Syndrome. (PMID 20301323)