P36L (p.Pro36Leu) variant of TP53 (Cellular tumor antigen p53)
P36L (p.Pro36Leu) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs587781866
- ClinGen CA003257
- cosmic curated COSV53085
- ClinVar RCV001009836
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.82
- MetaSVM 0.47
- CADD 1.18
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Benign (in a sporadic cancer)
- UniProt: Benign (in a sporadic cancer)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- p53 variant effect measured by cell growth: score -3.65
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)