L137I (p.Leu137Ile) variant of UBE3A (Ubiquitin-protein ligase E3A)
L137I (p.Leu137Ile) 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 0.31 / 1. The record also includes population frequency data and published literature.
L137I (p.Leu137Ile) variant details
- p.Leu137Ile
- rs566793027
- ClinGen CA7435630
- ClinVar RCV001227497
- 1000Genomes rs566793027
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.22
- MetaLR 0.03
- MetaSVM -1.09
- PolyPhen-2 0.61
- SIFT 0.67
- EVE 0.13
- ClinVar: Uncertain significance (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)