R273C (p.Arg273Cys) variant of TP53 (Cellular tumor antigen p53)
R273C (p.Arg273Cys) 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 Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R273C (p.Arg273Cys) variant details
- p.Arg273Cys
- rs121913343
- Civic 121
- ClinGen CA000432
- NCI-TCGA Cosmic COSV5266
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Adrenocor)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)