P36Q (p.Pro36Gln) variant of TP53 (Cellular tumor antigen p53)
P36Q (p.Pro36Gln) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes experimental measurements, published literature, and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- rs587781866
- ClinGen CA000031
- ClinVar RCV000130183
- ClinVar RCV000213046
- Benign
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.82
- MetaSVM 0.47
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Benign (Li-Fraumeni syndrome)
- EBI: Benign (in a sporadic cancer)
- UniProt: Benign (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -3.65
- 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)