R248Q (p.Arg248Gln) variant of TP53 (Cellular tumor antigen p53)
R248Q (p.Arg248Gln) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R248Q (p.Arg248Gln) variant details
- p.Arg248Gln
- rs11540652
- ClinGen CA000387
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 29.40
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. (PMID 10797439)
- Cited in: Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. (PMID 1565143)