M56T (p.Met56Thr) variant of WDR45 (Q9Y484)
M56T (p.Met56Thr) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodegeneration with brain iron accumulation 5. The record also includes published literature and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- rs2520266319
- ClinGen CA412949184
- ClinVar RCV003027928
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5
- Missense
- ClinVar: Uncertain significance (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)