R248L (p.Arg248Leu) variant of TP53 (Cellular tumor antigen p53)
R248L (p.Arg248Leu) 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 0.89 / 1. The record also includes published literature and structural context.
R248L (p.Arg248Leu) variant details
- p.Arg248Leu
- rs11540652
- cosmic curated COSV52783
- ClinGen CA10580924
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available
- Cited in: Frequent p53 mutations in head and neck cancer. (PMID 1394225)
- Cited in: p53 alterations in human squamous cell carcinomas and carcinoma cell lines. (PMID 7682763)