R233Q (p.Arg233Gln) variant of WDR45 (Q9Y484)
R233Q (p.Arg233Gln) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R233Q (p.Arg233Gln) variant details
- p.Arg233Gln
- rs2520261349
- ClinGen CA412943543
- ClinVar RCV003080310
- ClinVar RCV005639460
- Conflicting interpretations
- not provided; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.78
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Neurodegeneration with brain iron accumulation 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)