S106R (p.Ser106Arg) variant of TP53 (Cellular tumor antigen p53)
S106R (p.Ser106Arg) 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 0.73 / 1. The record also includes experimental measurements, published literature, and structural context.
S106R (p.Ser106Arg) variant details
- p.Ser106Arg
- rs1555526581
- Ensembl rs1555526581
- ClinGen CA397844688
- NCI-TCGA Cosmic COSV5274
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.97
- MetaSVM 1.45
- PolyPhen-2 0.31
- SIFT 0.04
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in a familial cancer not matching LFS)
- UniProt: Likely pathogenic (in a familial cancer not matching LFS)
- Structural context available
- p53 variant effect measured by cell growth: score -3.37
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)