R111C (p.Arg111Cys) variant of WDR45 (Q9Y484)
R111C (p.Arg111Cys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R111C (p.Arg111Cys) variant details
- p.Arg111Cys
- rs781985024
- ClinGen CA10408567
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59875
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.68
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)