W82* (p.Trp82Ter) variant of WDR45 (Q9Y484)
W82* (p.Trp82Ter) in WDR45 (Q9Y484) is a protein-truncating change. Clinical records from UniProt describe it as neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W82* (p.Trp82Ter) variant details
- p.Trp82Ter
- rs1602539456
- ClinGen CA412948585
- ClinVar RCV000844934
- Ensembl rs1602539456
- Neurodegeneration with brain iron accumulation 5
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 36.00
- UniProt: Neurodegeneration with brain iron accumulation 5
- 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)