F109V (p.Phe109Val) variant of TP53 (Cellular tumor antigen p53)
F109V (p.Phe109Val) 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 not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F109V (p.Phe109Val) variant details
- p.Phe109Val
- rs1057523496
- ClinGen CA16608667
- NCI-TCGA Cosmic COSV5281
- cosmic curated COSV52819
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Li-Fraume)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- p53 variant effect measured by cell growth: score -2.97
- 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)