G167E (p.Gly167Glu) variant of WDR45 (Q9Y484)
G167E (p.Gly167Glu) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodegeneration with brain iron accumulation 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
G167E (p.Gly167Glu) variant details
- p.Gly167Glu
- rs1131691592
- ClinGen CA412945145
- ClinVar RCV000494456
- ClinVar RCV000554794
- Pathogenic/Likely pathogenic
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 1.00
- MetaLR 0.55
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)