Y220C (p.Tyr220Cys) variant of TP53 (Cellular tumor antigen p53)
Y220C (p.Tyr220Cys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y220C (p.Tyr220Cys) variant details
- p.Tyr220Cys
- rs121912666
- ClinGen CA000315
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52661
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.95
- CADD 32.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: p53 alterations in human squamous cell carcinomas and carcinoma cell lines. (PMID 7682763)
- Cited in: Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample. (PMID 9450901)