F383L (p.Phe383Leu) variant of WT1 (Wilms tumor protein)
F383L (p.Phe383Leu) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS4. The record also includes variant effect predictions and published literature.
F383L (p.Phe383Leu) variant details
- p.Phe383Leu
- UniProt VAR 007749
- Pathogenic
- in NPHS4
- Missense
- MetaLR 0.04
- MetaSVM -1.07
- SIFT 0.39
- EBI: Pathogenic (in NPHS4)
- UniProt: Pathogenic (in NPHS4)
- Cited in: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of… (PMID 9529364)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)