S273G (p.Ser273Gly) variant of WT1 (Wilms tumor protein)
S273G (p.Ser273Gly) 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 Drash syndrome; Meacham syndrome; Mesothelioma, malignant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature.
S273G (p.Ser273Gly) variant details
- p.Ser273Gly
- rs121907908
- UniProt VAR 007742
- Uncertain significance
- Drash syndrome; Meacham syndrome; Mesothelioma, malignant
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.14
- MetaLR 0.47
- MetaSVM -0.29
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Drash syndrome; Meacham syndrome; Mesothelioma, malignant)
- EBI: Benign
- UniProt: Benign
- Cited in: Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour. (PMID 8298644)
- Cited in: Ultrastructure and observations on the histogenesis of mesotheliomas, "adenomatoid tumors", of the female genital tract. (PMID 4332312)