R196G (p.Arg196Gly) variant of TP53 (Cellular tumor antigen p53)
R196G (p.Arg196Gly) 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; Li-Fraumeni syndrome; Li-Fraumeni syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R196G (p.Arg196Gly) variant details
- p.Arg196Gly
- rs397516435
- ClinGen CA10580935
- cosmic curated COSV53128
- ClinVar RCV000217052
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)