Q369P (p.Gln369Pro) variant of WT1 (Wilms tumor protein)
Q369P (p.Gln369Pro) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Wilms tumor 1; 11p partial monosomy syndrome. The record also includes variant effect predictions and published literature.
Q369P (p.Gln369Pro) variant details
- p.Gln369Pro
- UniProt VAR 043803
- Uncertain significance
- Inborn genetic diseases; Wilms tumor 1; 11p partial monosomy syndrome
- Missense
- MetaLR 0.77
- MetaSVM 0.61
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Wilms tumor 1; 11p partial monosomy syn)
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (PMID 10799199)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)