R110P (p.Arg110Pro) variant of TP53 (Cellular tumor antigen p53)
R110P (p.Arg110Pro) 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 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R110P (p.Arg110Pro) variant details
- p.Arg110Pro
- rs11540654
- ClinGen CA10580948
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.94
- MetaSVM 1.24
- PolyPhen-2 0.05
- SIFT 0.30
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score -0.506
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)