E258G (p.Glu258Gly) variant of TP53 (Cellular tumor antigen p53)
E258G (p.Glu258Gly) 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 Li-Fraumeni syndrome 1; Bone osteosarcoma; 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.
E258G (p.Glu258Gly) variant details
- p.Glu258Gly
- rs1060501201
- ClinGen CA16615703
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52661
- Conflicting interpretations
- Li-Fraumeni syndrome 1; Bone osteosarcoma; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.93
- CADD 29.10
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome 1; Bone osteosarcoma; Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)