R110G (p.Arg110Gly) variant of TP53 (Cellular tumor antigen p53)
R110G (p.Arg110Gly) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
R110G (p.Arg110Gly) variant details
- p.Arg110Gly
- rs587781371
- ClinGen CA397844579
- cosmic curated COSV10587
- ClinVar RCV001019706
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in a sporadic cancer)
- UniProt: Likely pathogenic (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -0.506
- 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)