P151T (p.Pro151Thr) variant of TP53 (Cellular tumor antigen p53)
P151T (p.Pro151Thr) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P151T (p.Pro151Thr) variant details
- p.Pro151Thr
- rs28934874
- ClinGen CA000198
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.93
- CADD 24.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score -2.3
- Cited in: A new mutation of exon 5 of the P53 gene in breast cancer. (PMID 8364550)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)