C360Y (p.Cys360Tyr) variant of WT1 (Wilms tumor protein)
C360Y (p.Cys360Tyr) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DDS. The record also includes variant effect predictions and published literature.
C360Y (p.Cys360Tyr) variant details
- p.Cys360Tyr
- UniProt VAR 043800
- Pathogenic
- in DDS
- Missense
- MetaLR 0.64
- MetaSVM 0.29
- SIFT 0.02
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities. (PMID 8411073)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)