P27R (p.Pro27Arg) variant of TP53 (Cellular tumor antigen p53)
P27R (p.Pro27Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs1555526933
- ClinGen CA397848431
- ClinVar RCV000822436
- ClinVar RCV005870913
- Uncertain significance
- not provided; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -2.87
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)