E98* (p.Glu98Ter) variant of WDR45 (Q9Y484)
E98* (p.Glu98Ter) in WDR45 (Q9Y484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E98* (p.Glu98Ter) variant details
- p.Glu98Ter
- rs781998959
- ClinGen CA412948355
- ClinVar RCV001260892
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.86
- MetaLR 0.35
- MetaSVM -0.39
- PolyPhen-2 0.91
- SIFT 0.01
- EVE 0.53
- 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)