P13A (p.Pro13Ala) variant of TP53 (Cellular tumor antigen p53)
P13A (p.Pro13Ala) 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 Li-Fraumeni syndrome; 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.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- rs1060501208
- ClinGen CA397849119
- ClinVar RCV002363952
- ClinVar RCV003775735
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)