R110L (p.Arg110Leu) variant of TP53 (Cellular tumor antigen p53)
R110L (p.Arg110Leu) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R110L (p.Arg110Leu) variant details
- p.Arg110Leu
- rs11540654
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5268
- Pathogenic
- Li-Fraumeni syndrome
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.63
- AlphaMissense 0.07
- MetaLR 0.94
- MetaSVM 1.24
- CADD 17.70
- PolyPhen-2 0.05
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in a familial cancer not matching LFS)
- UniProt: Pathogenic (in a familial cancer not matching LFS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- p53 variant effect measured by cell growth: score -0.506
- Cited in: p53 inhibits tumor cell invasion via the degradation of snail protein in hepatocellular carcinoma. (PMID 20385133)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)