R433Q (p.Arg433Gln) variant of WT1 (Wilms tumor protein)
R433Q (p.Arg433Gln) in WT1 (Wilms tumor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R433Q (p.Arg433Gln) variant details
- p.Arg433Gln
- rs144788858
- gnomAD 11-32392716-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.35
- MetaLR 0.03
- MetaSVM -1.09
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.18
- Population evidence available
- Structural context available
- Cited in: Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual… (PMID 24728327)