R86Q (p.Arg86Gln) variant of WDR45 (Q9Y484)
R86Q (p.Arg86Gln) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5; not s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs147437546
- ClinGen CA10408574
- ClinVar RCV000693149
- ClinVar RCV000999422
- Benign/Likely benign
- Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5; not s
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.15
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Neurodegeneration with brain iron accum)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 6.5e-05)
- 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)