D84N (p.Asp84Asn) variant of WDR45 (Q9Y484)
D84N (p.Asp84Asn) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inborn genetic diseases; Neurodegeneration with brain iron accumul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- rs142809324
- ClinGen CA10408577
- ClinVar RCV001511746
- ClinVar RCV001577957
- Benign/Likely benign
- not provided; Inborn genetic diseases; Neurodegeneration with brain iron accumul
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.18
- CADD 23.40
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases; Neurodegeneration with br)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00034)
- 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)