A159P (p.Ala159Pro) variant of TP53 (Cellular tumor antigen p53)
A159P (p.Ala159Pro) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A159P (p.Ala159Pro) variant details
- p.Ala159Pro
- rs730882000
- ClinGen CA000233
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52661
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Li-Fraum)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- p53 variant effect measured by cell growth: score -2.34
- 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)