P4L (p.Pro4Leu) variant of TP53 (Cellular tumor antigen p53)
P4L (p.Pro4Leu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs878854064
- ClinGen CA10583686
- NCI-TCGA Cosmic COSV5280
- cosmic curated COSV52800
- Likely benign
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 0.99
- CADD 9.81
- ClinVar: Likely benign (Li-Fraumeni syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- p53 variant effect measured by cell growth: score -2.1
- 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)