P181S (p.Pro181Ser) variant of WT1 (Wilms tumor protein)
P181S (p.Pro181Ser) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WT1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature.
P181S (p.Pro181Ser) variant details
- p.Pro181Ser
- rs2234584
- UniProt VAR 007739
- Pathogenic
- in WT1
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.10
- MetaLR 0.36
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Pathogenic (in WT1)
- UniProt: Pathogenic (in WT1)
- Cited in: Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual… (PMID 24728327)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)