L51R (p.Leu51Arg) variant of DICER1 (Endoribonuclease Dicer)
L51R (p.Leu51Arg) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L51R (p.Leu51Arg) variant details
- p.Leu51Arg
- rs2543372751
- ClinGen CA390890170
- ClinVar RCV003588090
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.76
- CADD 28.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)