R248W (p.Arg248Trp) variant of TP53 (Cellular tumor antigen p53)
R248W (p.Arg248Trp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R248W (p.Arg248Trp) variant details
- p.Arg248Trp
- rs121912651
- ClinGen CA000382
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52662
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- CADD 28.30
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. (PMID 1631137)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)