R280S (p.Arg280Ser) variant of TP53 (Cellular tumor antigen p53)
R280S (p.Arg280Ser) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R280S (p.Arg280Ser) variant details
- p.Arg280Ser
- rs1567547687
- ClinGen CA397836831
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5278
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 24.20
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)