P12L (p.Pro12Leu) variant of TP53 (Cellular tumor antigen p53)
P12L (p.Pro12Leu) 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 0.51 / 1. The record also includes experimental measurements, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs1482497533
- ClinGen CA397849144
- ClinVar RCV000633363
- ClinVar RCV000772527
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.95
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score 0.977
- 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)