H86Y (p.His86Tyr) variant of UBE3A (Ubiquitin-protein ligase E3A)
H86Y (p.His86Tyr) 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; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H86Y (p.His86Tyr) variant details
- p.His86Tyr
- rs1452134414
- ClinGen CA391356300
- ClinVar RCV002005694
- ClinVar RCV003313257
- Uncertain significance
- not provided; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.99
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.40
- SIFT 0.23
- MutPred 0.25
- ClinVar: Uncertain significance (not provided; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context 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)