P13R (p.Pro13Arg) variant of TP53 (Cellular tumor antigen p53)
P13R (p.Pro13Arg) 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; Li-Fraumeni syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes experimental measurements, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- rs878854070
- ClinGen CA397849109
- ClinVar RCV000571735
- ClinVar RCV001044075
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -2.63
- 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)