W9* (p.Trp9Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
W9* (p.Trp9Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W9* (p.Trp9Ter) variant details
- p.Trp9Ter
- rs765727905
- ClinGen CA7435744
- ClinVar RCV001775356
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- UBE3A Ubiquitin-protein ligase E3A, N-terminal zinc-binding domain domainome 1.0: score -0.123
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)