C277F (p.Cys277Phe) variant of TP53 (Cellular tumor antigen p53)
C277F (p.Cys277Phe) 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 TP53-related disorder; Hereditary cancer-predisposing syndrome; Li-Fraumeni synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C277F (p.Cys277Phe) variant details
- p.Cys277Phe
- rs763098116
- ClinGen CA001518
- NCI-TCGA Cosmic COSV5269
- cosmic curated COSV52693
- Conflicting interpretations
- TP53-related disorder; Hereditary cancer-predisposing syndrome; Li-Fraumeni synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.94
- CADD 27.10
- ClinVar: Conflicting classifications of pathogenicity (TP53-related disorder; Hereditary cancer-predisposing syndrome;)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-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)