Y126C (p.Tyr126Cys) variant of TP53 (Cellular tumor antigen p53)
Y126C (p.Tyr126Cys) 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 not provided; Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y126C (p.Tyr126Cys) variant details
- p.Tyr126Cys
- rs1555526335
- ClinGen CA397843956
- NCI-TCGA Cosmic COSV5268
- cosmic curated COSV52689
- Conflicting interpretations
- not provided; Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.93
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Li-Fraumeni syndrome 1; Hereditary cancer-predispo)
- EBI: Pathogenic (in a familial cancer not matching LFS)
- UniProt: Pathogenic (in a familial cancer not matching LFS)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- p53 variant effect measured by cell growth: score 0.577
- 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)