D429N (p.Asp429Asn) variant of WT1 (Wilms tumor protein)
D429N (p.Asp429Asn) in WT1 (Wilms tumor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D429N (p.Asp429Asn) variant details
- p.Asp429Asn
- rs28941778
- gnomAD 11-32392014-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.32
- MetaLR 0.29
- MetaSVM -0.74
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Cited in: Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS. (PMID 29138824)
- Cited in: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of… (PMID 9529364)