R273H (p.Arg273His) variant of TP53 (Cellular tumor antigen p53)
R273H (p.Arg273His) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. 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.
R273H (p.Arg273His) variant details
- p.Arg273His
- rs28934576
- Civic 122
- ClinGen CA000434
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.80
- PolyPhen-2 0.64
- SIFT 0.13
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Phosphorylation of Ser-20 mediates stabilization of human p53 in response to DNA damage. (PMID 10570149)
- Cited in: Frequent p53 mutations in head and neck cancer. (PMID 1394225)