L35F (p.Leu35Phe) variant of TP53 (Cellular tumor antigen p53)
L35F (p.Leu35Phe) 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 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L35F (p.Leu35Phe) variant details
- p.Leu35Phe
- rs121912661
- ClinGen CA000025
- cosmic curated COSV53176
- ClinVar RCV000013170
- Likely benign
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.03
- PolyPhen-2 0.06
- SIFT 0.71
- ClinVar: Likely benign (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- p53 variant effect measured by cell growth: score 0.567
- Cited in: p53 mutations are common in pancreatic cancer and are absent in chronic pancreatitis. (PMID 8513440)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)