R282P (p.Arg282Pro) variant of TP53 (Cellular tumor antigen p53)
R282P (p.Arg282Pro) in TP53 (Cellular tumor antigen p53) is a protein-truncating change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Bone osteosarcoma. The record also includes structural context.
R282P (p.Arg282Pro) variant details
- p.Arg282Pro
- NCI-TCGA Cosmic COSV5368
- Pathogenic/Likely pathogenic
- Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Bone osteosarcoma
- Frameshift
- ClinVar: Pathogenic/Likely pathogenic (Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; B)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available