V108M (p.Val108Met) variant of WDR45 (Q9Y484)
V108M (p.Val108Met) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neurodegeneration with brain iron accumulation 5. The record also includes published literature and structural context.
V108M (p.Val108Met) variant details
- p.Val108Met
- rs2520264105
- ClinGen CA412946694
- ClinVar RCV003225545
- ClinVar RCV005102418
- Uncertain significance
- not provided; Neurodegeneration with brain iron accumulation 5
- Missense
- ClinVar: Uncertain significance (not provided; Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)