R440Q (p.Arg440Gln) variant of WT1 (Wilms tumor protein)
R440Q (p.Arg440Gln) in WT1 (Wilms tumor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R440Q (p.Arg440Gln) variant details
- p.Arg440Gln
- rs139893274
- gnomAD 11-32389158-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- MetaLR 0.15
- MetaSVM -0.67
- CADD 28.10
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available