T679I (p.Thr679Ile) variant of UBE3A (Ubiquitin-protein ligase E3A)
T679I (p.Thr679Ile) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature.
T679I (p.Thr679Ile) variant details
- p.Thr679Ile
- rs587781236
- ClinGen CA333375
- ClinVar RCV000144312
- UniProt VAR 073214
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.15
- MetaLR 0.23
- MetaSVM -0.72
- PolyPhen-2 0.05
- SIFT 0.10
- EVE 0.26
- ClinVar: Pathogenic (Angelman syndrome)
- EBI: Pathogenic (in AS)
- UniProt: Pathogenic (in AS)
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)