E11Q (p.Glu11Gln) variant of TP53 (Cellular tumor antigen p53)
E11Q (p.Glu11Gln) 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 Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- rs201382018
- ClinGen CA000106
- cosmic curated COSV52746
- ClinVar RCV000034640
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Benign (in sporadic cancers)
- UniProt: Benign (in sporadic cancers)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- p53 variant effect measured by cell growth: score -2.37
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)