Y163C (p.Tyr163Cys) variant of TP53 (Cellular tumor antigen p53)
Y163C (p.Tyr163Cys) 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 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y163C (p.Tyr163Cys) variant details
- p.Tyr163Cys
- rs148924904
- ClinGen CA000240
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52663
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- p53 variant effect measured by cell growth: score -1.49
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)