R151C (p.Arg151Cys) variant of UBE3A (Ubiquitin-protein ligase E3A)
R151C (p.Arg151Cys) 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 0.43 / 1. The record also includes population frequency data and published literature.
R151C (p.Arg151Cys) variant details
- p.Arg151Cys
- rs587783101
- ClinGen CA294646
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51669
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.96
- MetaLR 0.15
- MetaSVM -0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- 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)