C275G (p.Cys275Gly) variant of TP53 (Cellular tumor antigen p53)
C275G (p.Cys275Gly) 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; Li-Fraumeni syndr. 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.
C275G (p.Cys275Gly) variant details
- p.Cys275Gly
- rs1057519983
- ClinGen CA397836949
- NCI-TCGA Cosmic COSV5270
- NCI-TCGA Cosmic COSV5277
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- CADD 29.60
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- 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)