C355Y (p.Cys355Tyr) variant of WT1 (Wilms tumor protein)
C355Y (p.Cys355Tyr) 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.
C355Y (p.Cys355Tyr) variant details
- p.Cys355Tyr
- UniProt VAR 015055
- Pathogenic
- in DDS
- Missense
- MetaLR 0.66
- MetaSVM 0.37
- SIFT 0.10
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)
- Cited in: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? (PMID 9475094)