L35M (p.Leu35Met) variant of TP53 (Cellular tumor antigen p53)
L35M (p.Leu35Met) 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 Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L35M (p.Leu35Met) variant details
- p.Leu35Met
- rs1060501211
- ClinGen CA16615715
- ClinVar RCV000470404
- ClinVar RCV000572574
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.72
- PolyPhen-2 0.10
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- EBI: Variant of uncertain significance (in sporadic cancers)
- UniProt: Uncertain significance (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- p53 variant effect measured by cell growth: score 0.567
- 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)