L51M (p.Leu51Met) variant of DICER1 (Endoribonuclease Dicer)
L51M (p.Leu51Met) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition. The record also includes published literature and structural context.
L51M (p.Leu51Met) variant details
- p.Leu51Met
- rs1894056077
- ClinGen CA390890176
- ClinVar RCV001883053
- gnomAD rs1894056077
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; DICER1-related tumor pr)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)