C242G (p.Cys242Gly) variant of TP53 (Cellular tumor antigen p53)
C242G (p.Cys242Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C242G (p.Cys242Gly) variant details
- p.Cys242Gly
- rs1057519982
- ClinGen CA501041
- cosmic curated COSV52760
- ClinVar RCV000461418
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.88
- CADD 29.40
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- 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)