P34L (p.Pro34Leu) variant of TP53 (Cellular tumor antigen p53)
P34L (p.Pro34Leu) 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; Li-Fraumeni syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs1322947350
- ClinGen CA397848043
- cosmic curated COSV52693
- ClinVar RCV001009721
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.66
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- 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 0.619
- 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)