S223N (p.Ser223Asn) variant of WT1 (Wilms tumor protein)
S223N (p.Ser223Asn) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WT1. The record also includes variant effect predictions and published literature.
S223N (p.Ser223Asn) variant details
- p.Ser223Asn
- UniProt VAR 007740
- Pathogenic
- in WT1
- Missense
- MetaLR 0.41
- MetaSVM -0.28
- SIFT 0.04
- EBI: Pathogenic (in WT1)
- UniProt: Pathogenic (in WT1)
- Cited in: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of… (PMID 9529364)
- Cited in: Zinc finger point mutations within the WT1 gene in Wilms tumor patients. (PMID 1317572)