P8T (p.Pro8Thr) variant of TP53 (Cellular tumor antigen p53)
P8T (p.Pro8Thr) 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 Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- rs1597376589
- ClinGen CA397849313
- ClinVar RCV000822860
- ClinVar RCV001015108
- Conflicting interpretations
- Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome;)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score 0.9
- 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)