S15R (p.Ser15Arg) variant of TP53 (Cellular tumor antigen p53)
S15R (p.Ser15Arg) 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 Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- rs2073520545
- ClinGen CA397849074
- ClinVar RCV001316024
- Ensembl rs2073520545
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.72
- ESM-1b 0.30
- AlphaMissense 0.95
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- p53 variant effect measured by cell growth: score -2.99
- 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)