A80T (p.Ala80Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)
A80T (p.Ala80Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- rs2081077265
- ClinGen CA391356343
- ClinVar RCV003621374
- ClinVar RCV006451419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.86
- MetaLR 0.32
- MetaSVM -0.45
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- 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)