G52D (p.Gly52Asp) variant of WDR45 (Q9Y484)
G52D (p.Gly52Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- rs201716815
- ClinGen CA10408600
- ClinVar RCV000521533
- ClinVar RCV001359363
- Conflicting interpretations
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.48
- CADD 19.40
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)