H405R (p.His405Arg) variant of WT1 (Wilms tumor protein)
H405R (p.His405Arg) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wilms tumor 1; Meacham syndrome; Nephrotic syndrome, type 4. The record also includes variant effect predictions and published literature.
H405R (p.His405Arg) variant details
- p.His405Arg
- UniProt VAR 043812
- Likely pathogenic
- Wilms tumor 1; Meacham syndrome; Nephrotic syndrome, type 4
- Missense
- MetaLR 0.19
- MetaSVM -0.84
- SIFT 0.04
- ClinVar: Likely pathogenic (Wilms tumor 1; Meacham syndrome; Nephrotic syndrome, type 4)
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. (PMID 15349765)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)