R282W (p.Arg282Trp) variant of TP53 (Cellular tumor antigen p53)
R282W (p.Arg282Trp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Pleomorp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R282W (p.Arg282Trp) variant details
- p.Arg282Trp
- rs28934574
- ClinGen CA000454
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52662
- Pathogenic/Likely pathogenic
- Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Pleomorp
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.02
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wi)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma. (PMID 1349175)
- Cited in: Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. (PMID 1565143)