R232C (p.Arg232Cys) variant of WDR45 (Q9Y484)
R232C (p.Arg232Cys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability; Neurodegeneration with brain iron accumul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
R232C (p.Arg232Cys) variant details
- p.Arg232Cys
- rs1602537958
- ClinGen CA412943588
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59875
- Conflicting interpretations
- not provided; Intellectual disability; Neurodegeneration with brain iron accumul
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability; Neurodegeneration with br)
- EBI: Likely pathogenic
- UniProt: Likely 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)