L286W (p.Leu286Trp) variant of UBE3A (Ubiquitin-protein ligase E3A)
L286W (p.Leu286Trp) 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.
L286W (p.Leu286Trp) variant details
- p.Leu286Trp
- rs587780583
- ClinGen CA333487
- ClinVar RCV000144557
- UniProt VAR 073202
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.97
- MetaLR 0.09
- MetaSVM -1.11
- PolyPhen-2 0.99
- SIFT 0.09
- EVE 0.42
- 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)