M51V (p.Met51Val) variant of WDR45 (Q9Y484)
M51V (p.Met51Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M51V (p.Met51Val) variant details
- p.Met51Val
- rs781821289
- ClinGen CA10408602
- ClinVar RCV002050059
- ExAC rs781821289
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.17
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)