R273G (p.Arg273Gly) variant of TP53 (Cellular tumor antigen p53)
R273G (p.Arg273Gly) 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 Adrenocortical carcinoma, hereditary; Hepatocellular carcinoma; Familial cancer. 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.
R273G (p.Arg273Gly) variant details
- p.Arg273Gly
- rs121913343
- ClinGen CA397836977
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- Pathogenic/Likely pathogenic
- Adrenocortical carcinoma, hereditary; Hepatocellular carcinoma; Familial cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adrenocortical carcinoma, hereditary; Hepatocellular carcinoma;)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)