L398P (p.Leu398Pro) variant of WT1 (Wilms tumor protein)
L398P (p.Leu398Pro) 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.
L398P (p.Leu398Pro) variant details
- p.Leu398Pro
- UniProt VAR 015062
- Pathogenic
- in DDS
- Missense
- MetaLR 0.60
- MetaSVM 0.40
- SIFT 0.00
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Molecular analysis of two Japanese cases of Denys-Drash syndrome. (PMID 8295405)
- Cited in: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of… (PMID 9529364)