M1K (p.Met1Lys) variant of WDR45 (Q9Y484)
M1K (p.Met1Lys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodegeneration with brain iron accumulation 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1569523565
- ClinGen CA412949588
- ClinVar RCV000760207
- ClinVar RCV000999424
- Pathogenic/Likely pathogenic
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.12
- MetaLR 0.58
- MetaSVM 0.19
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Neurodegeneration with brain iron accumulation 5; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)