M1V (p.Met1Val) variant of WDR45 (Q9Y484)
M1V (p.Met1Val) 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 0.43 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2065048490
- ClinGen CA412949591
- ClinVar RCV001260829
- ClinVar RCV001879996
- Pathogenic/Likely pathogenic
- Neurodegeneration with brain iron accumulation 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.06
- MetaLR 0.53
- MetaSVM 0.07
- PolyPhen-2 0.32
- 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: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)