P13L (p.Pro13Leu) variant of TP53 (Cellular tumor antigen p53)
P13L (p.Pro13Leu) 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; Adrenocortical carcinoma, hereditary; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs878854070
- ClinGen CA10583685
- cosmic curated COSV52942
- ClinVar RCV000226793
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Adrenocortical carcinom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)