R86W (p.Arg86Trp) variant of WDR45 (Q9Y484)
R86W (p.Arg86Trp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs139837168
- ClinGen CA10408575
- ClinVar RCV002953140
- ClinVar RCV005774502
- Conflicting interpretations
- Neurodegeneration with brain iron accumulation 5; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.32
- CADD 28.20
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Neurodegeneration with brain iron accumulation 5; Inborn genetic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)