Y126N (p.Tyr126Asn) variant of TP53 (Cellular tumor antigen p53)
Y126N (p.Tyr126Asn) 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 Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn. 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.
Y126N (p.Tyr126Asn) variant details
- p.Tyr126Asn
- rs886039483
- ClinGen CA397843963
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5280
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.93
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Population evidence available
- 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)