R109C (p.Arg109Cys) variant of WDR45 (Q9Y484)
R109C (p.Arg109Cys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurodegeneration with brain iron accumulation 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R109C (p.Arg109Cys) variant details
- p.Arg109Cys
- rs369310756
- ClinGen CA10408570
- cosmic curated COSV59877
- ClinVar RCV001468848
- Conflicting interpretations
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.76
- CADD 25.50
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Amish population (allele frequency 0.012)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)