P27L (p.Pro27Leu) variant of TP53 (Cellular tumor antigen p53)
P27L (p.Pro27Leu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Colorectal cancer; Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs1555526933
- ClinGen CA397848433
- NCI-TCGA Cosmic COSV5366
- cosmic curated COSV53662
- Conflicting interpretations
- Colorectal cancer; Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Colorectal cancer; Li-Fraumeni syndrome 1; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -2.87
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)