C388Y (p.Cys388Tyr) variant of WT1 (Wilms tumor protein)
C388Y (p.Cys388Tyr) 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.
C388Y (p.Cys388Tyr) variant details
- p.Cys388Tyr
- UniProt VAR 043806
- Pathogenic
- in DDS
- Missense
- MetaLR 0.70
- MetaSVM 0.43
- SIFT 0.00
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. (PMID 11519891)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)