L111Q (p.Leu111Gln) variant of TP53 (Cellular tumor antigen p53)
L111Q (p.Leu111Gln) 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 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
L111Q (p.Leu111Gln) variant details
- p.Leu111Gln
- rs1057519997
- ClinGen CA16603051
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5269
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score -1.03
- 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)