P27A (p.Pro27Ala) variant of TP53 (Cellular tumor antigen p53)
P27A (p.Pro27Ala) 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; Li-Fraumeni 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.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- rs922736614
- ClinGen CA397848447
- ClinVar RCV002035792
- ClinVar RCV002423240
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- p53 variant effect measured by cell growth: score -2.87
- 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)