L51V (p.Leu51Val) variant of DICER1 (Endoribonuclease Dicer)
L51V (p.Leu51Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- rs1894056077
- ClinGen CA390890177
- ClinVar RCV003025960
- gnomAD rs1894056077
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.23
- CADD 25.10
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)