I254N (p.Ile254Asn) variant of TP53 (Cellular tumor antigen p53)
I254N (p.Ile254Asn) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I254N (p.Ile254Asn) variant details
- p.Ile254Asn
- rs1330865474
- ClinGen CA397837760
- NCI-TCGA Cosmic COSV5267
- cosmic curated COSV52674
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.48
- MetaSVM 0.08
- CADD 26.10
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)