R273L (p.Arg273Leu) variant of TP53 (Cellular tumor antigen p53)
R273L (p.Arg273Leu) in TP53 (Cellular tumor antigen p53) is a protein-truncating change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Bone osteosarcoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R273L (p.Arg273Leu) variant details
- p.Arg273Leu
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5272
- Pathogenic
- Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Bone osteosarcoma
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.92
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; B)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)