P34R (p.Pro34Arg) variant of TP53 (Cellular tumor antigen p53)
P34R (p.Pro34Arg) 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 Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- rs1322947350
- ClinGen CA397848051
- ClinVar RCV000772948
- ClinVar RCV002290017
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.46
- ESM-1b 0.05
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.66
- CADD 7.04
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; L)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 0.619
- 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)