R249G (p.Arg249Gly) variant of TP53 (Cellular tumor antigen p53)
R249G (p.Arg249Gly) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn. 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.
R249G (p.Arg249Gly) variant details
- p.Arg249Gly
- rs587782082
- ClinGen CA16603071
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- CADD 23.20
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)