R30C (p.Arg30Cys) variant of WDR45 (Q9Y484)
R30C (p.Arg30Cys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs782380620
- ClinGen CA10408624
- cosmic curated COSV10054
- ClinVar RCV001327502
- Uncertain significance
- not provided; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.69
- CADD 28.60
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)