L194R (p.Leu194Arg) variant of TP53 (Cellular tumor antigen p53)
L194R (p.Leu194Arg) in TP53 (Cellular tumor antigen p53) is a missense 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L194R (p.Leu194Arg) variant details
- p.Leu194Arg
- rs1057519998
- ClinGen CA16044097
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- CADD 30.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: p53 alterations in human squamous cell carcinomas and carcinoma cell lines. (PMID 7682763)
- Cited in: Lynch Syndrome. (PMID 20301390)