I70V (p.Ile70Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
I70V (p.Ile70Val) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- rs587783146
- ClinGen CA294734
- NCI-TCGA Cosmic COSV5167
- ClinVar RCV000144820
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.65
- MutPred 0.15
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)