R158L (p.Arg158Leu) variant of TP53 (Cellular tumor antigen p53)
R158L (p.Arg158Leu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R158L (p.Arg158Leu) variant details
- p.Arg158Leu
- rs1567553501
- ClinGen CA645589033
- ClinVar RCV000688595
- ClinVar RCV001022965
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Bone mar)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- p53 variant effect measured by cell growth: score 0.715
- 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)