K132R (p.Lys132Arg) variant of TP53 (Cellular tumor antigen p53)
K132R (p.Lys132Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K132R (p.Lys132Arg) variant details
- p.Lys132Arg
- rs1057519996
- ClinGen CA16603045
- cosmic curated COSV52666
- ClinVar RCV000471183
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; B
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- ESM-1b 1.00
- AlphaMissense 0.51
- ClinVar: Uncertain significance (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 -2.38
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)