P190R (p.Pro190Arg) variant of TP53 (Cellular tumor antigen p53)
P190R (p.Pro190Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adrenocortical carcinoma, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P190R (p.Pro190Arg) variant details
- p.Pro190Arg
- rs876660825
- ClinGen CA10580937
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5298
- Uncertain significance
- Adrenocortical carcinoma, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Adrenocortical carcinoma, hereditary)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 0.202
- 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)