R213Q (p.Arg213Gln) variant of TP53 (Cellular tumor antigen p53)
R213Q (p.Arg213Gln) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R213Q (p.Arg213Gln) variant details
- p.Arg213Gln
- rs587778720
- cosmic curated COSV99386
- ClinGen CA000302
- NCI-TCGA Cosmic COSV5266
- Pathogenic/Likely pathogenic
- Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.95
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (Breast and/or ovarian cancer; Hereditary cancer-predisposing syn)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- 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)