E76* (p.Glu76Ter) variant of WDR45 (Q9Y484)
E76* (p.Glu76Ter) in WDR45 (Q9Y484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- rs2147817379
- ClinGen CA412949042
- ClinVar RCV001387145
- Ensembl rs2147817379
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)