L52F (p.Leu52Phe) variant of DICER1 (Endoribonuclease Dicer)
L52F (p.Leu52Phe) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition. The record also includes published literature and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- rs1595466704
- ClinGen CA390890164
- ClinVar RCV001055765
- Ensembl rs1595466704
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)