E286G (p.Glu286Gly) variant of TP53 (Cellular tumor antigen p53)
E286G (p.Glu286Gly) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E286G (p.Glu286Gly) variant details
- p.Glu286Gly
- rs1057519985
- ClinGen CA16603012
- cosmic curated COSV52661
- ClinVar RCV000556558
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 1.00
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)