R394W (p.Arg394Trp) variant of WT1 (Wilms tumor protein)
R394W (p.Arg394Trp) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of WT1-related disorder; Kidney disorder; Frasier syndrome. The record also includes variant effect predictions and published literature.
R394W (p.Arg394Trp) variant details
- p.Arg394Trp
- UniProt VAR 007750
- Pathogenic/Likely pathogenic
- WT1-related disorder; Kidney disorder; Frasier syndrome
- Missense
- MetaLR 0.33
- MetaSVM -0.59
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (WT1-related disorder; Kidney disorder; Frasier syndrome)
- EBI: Pathogenic (in DDS, WT1, MEACHS and NPHS4)
- UniProt: Pathogenic (in DDS, WT1, MEACHS and NPHS4)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)
- Cited in: Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. (PMID 1302008)