R267W (p.Arg267Trp) variant of TP53 (Cellular tumor antigen p53)
R267W (p.Arg267Trp) 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 Breast and/or ovarian cancer; Glioma susceptibility 1; Bone osteosarcoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R267W (p.Arg267Trp) variant details
- p.Arg267Trp
- rs55832599
- ClinGen CA000423
- NCI-TCGA Cosmic COSV5267
- cosmic curated COSV52678
- Pathogenic/Likely pathogenic
- Breast and/or ovarian cancer; Glioma susceptibility 1; Bone osteosarcoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 0.94
- CADD 26.60
- ClinVar: Pathogenic/Likely pathogenic (Breast and/or ovarian cancer; Glioma susceptibility 1; Bone oste)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)