R175G (p.Arg175Gly) variant of TP53 (Cellular tumor antigen p53)
R175G (p.Arg175Gly) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R175G (p.Arg175Gly) variant details
- p.Arg175Gly
- rs138729528
- ClinGen CA16603066
- NCI-TCGA Cosmic COSV5268
- NCI-TCGA Cosmic COSV5271
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- p53 variant effect measured by cell growth: score 0.17
- 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)