R109H (p.Arg109His) variant of WDR45 (Q9Y484)
R109H (p.Arg109His) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R109H (p.Arg109His) variant details
- p.Arg109His
- rs782329150
- ClinGen CA10408569
- cosmic curated COSV10963
- ClinVar RCV001236016
- Conflicting interpretations
- not provided; Inborn genetic diseases; Neurodegeneration with brain iron accumul
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.55
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Neurodegeneration with br)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00024)
- 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)