G67D (p.Gly67Asp) variant of WDR45 (Q9Y484)
G67D (p.Gly67Asp) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G67D (p.Gly67Asp) variant details
- p.Gly67Asp
- rs2065045650
- ClinGen CA412949114
- ClinVar RCV001042261
- NCI-TCGA TCGA novel
- Likely pathogenic
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.67
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodegeneration with brain iron accumulation 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)