L35C (p.Leu35Cys) variant of TP53 (Cellular tumor antigen p53)
L35C (p.Leu35Cys) in TP53 (Cellular tumor antigen p53) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in sporadic cancers. The record also includes experimental measurements, published literature, and structural context.
L35C (p.Leu35Cys) variant details
- p.Leu35Cys
- rs2543636972
- ClinGen CA497718920
- ClinVar RCV002401110
- NCI-TCGA Cosmic COSV5283
- Pathogenic
- in sporadic cancers
- Frameshift
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score 0.567
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)