H397P (p.His397Pro) variant of WT1 (Wilms tumor protein)
H397P (p.His397Pro) 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.
H397P (p.His397Pro) variant details
- p.His397Pro
- UniProt VAR 043810
- Pathogenic
- in NPHS4
- Missense
- MetaLR 0.11
- MetaSVM -0.86
- SIFT 0.00
- EBI: Pathogenic (in NPHS4)
- UniProt: Pathogenic (in NPHS4)
- Cited in: Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic… (PMID 15253707)
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)