P12R (p.Pro12Arg) variant of TP53 (Cellular tumor antigen p53)
P12R (p.Pro12Arg) 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 population frequency data, experimental measurements, published literature, and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs1482497533
- ClinGen CA397849154
- ClinVar RCV000821845
- ClinVar RCV002259033
- Conflicting interpretations
- Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.95
- MetaSVM 0.76
- CADD 18.50
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- 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)