L25R (p.Leu25Arg) variant of TP53 (Cellular tumor antigen p53)
L25R (p.Leu25Arg) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- rs2151047184
- ClinGen CA397848625
- ClinVar RCV002391618
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score 0.489
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)