P152L (p.Pro152Leu) variant of TP53 (Cellular tumor antigen p53)
P152L (p.Pro152Leu) 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 Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P152L (p.Pro152Leu) variant details
- p.Pro152Leu
- rs587782705
- cosmic curated COSV53577
- ClinGen CA000204
- NCI-TCGA Cosmic COSV5266
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 1.00
- MetaSVM 0.93
- CADD 24.20
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- p53 variant effect measured by cell growth: score 0.4
- Cited in: p53 gene mutations in Barrett's epithelium and esophageal cancer. (PMID 1868473)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)