R440* (p.Arg440Ter) variant of WT1 (Wilms tumor protein)
R440* (p.Arg440Ter) in WT1 (Wilms tumor protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R440* (p.Arg440Ter) variant details
- p.Arg440Ter
- rs121907909
- gnomAD 11-32392032-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 43.00
- Population evidence available
- Structural context available
- Cited in: Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. (PMID 10571943)
- Cited in: Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant… (PMID 9108089)