G253A (p.Gly253Ala) variant of WT1 (Wilms tumor protein)
G253A (p.Gly253Ala) 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 Wilms tumor 1. The record also includes variant effect predictions and published literature.
G253A (p.Gly253Ala) variant details
- p.Gly253Ala
- UniProt VAR 007741
- Uncertain significance
- Wilms tumor 1
- Missense
- MetaLR 0.51
- MetaSVM 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Wilms tumor 1)
- EBI: Pathogenic (in WT1)
- UniProt: Pathogenic (in WT1)
- Cited in: Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant… (PMID 9108089)
- Cited in: Zinc finger point mutations within the WT1 gene in Wilms tumor patients. (PMID 1317572)