Q16R (p.Gln16Arg) variant of TP53 (Cellular tumor antigen p53)
Q16R (p.Gln16Arg) 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; Adrenocortical carcinoma, hereditary; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes experimental measurements, published literature, and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- rs2073520057
- ClinGen CA397848986
- ClinVar RCV001035873
- ClinVar RCV003467707
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- ESM-1b 0.00
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Adrenocortical carcinom)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -3.51
- 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)