P27T (p.Pro27Thr) variant of TP53 (Cellular tumor antigen p53)
P27T (p.Pro27Thr) 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; not provided; Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- rs922736614
- ClinGen CA16615735
- cosmic curated COSV99391
- ClinVar RCV000468603
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.60
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Li-Fraume)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- p53 variant effect measured by cell growth: score -2.87
- 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)