V54del variant of WDR45 (Q9Y484)
For V54del in WDR45 (Q9Y484), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as conflicting interpretations. The record also includes structural context.
V54del variant details
- rs864309661
- Conflicting interpretations
- EBI: ['likely-pathogenic', 'uncertain-significance']
- UniProt: Likely-pathogenic
- Structural context available