Q5R (p.Gln5Arg) variant of TP53 (Cellular tumor antigen p53)
Q5R (p.Gln5Arg) 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; Li-Fraumeni syndrome; Li-Fraumeni syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- rs781595324
- ClinGen CA003990
- ClinVar RCV000220312
- ClinVar RCV000550564
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.12
- PolyPhen-2 0.34
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- p53 variant effect measured by cell growth: score -3.39
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)