L111P (p.Leu111Pro) variant of TP53 (Cellular tumor antigen p53)
L111P (p.Leu111Pro) in TP53 (Cellular tumor antigen p53) is a protein-truncating change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
L111P (p.Leu111Pro) variant details
- p.Leu111Pro
- rs1057519997
- NCI-TCGA Cosmic COSV9903
- ClinGen CA16603049
- cosmic curated COSV52985
- Pathogenic
- Li-Fraumeni syndrome
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score -1.03
- 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)