L16R (p.Leu16Arg) variant of DICER1 (Endoribonuclease Dicer)
L16R (p.Leu16Arg) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- rs1595469050
- ClinGen CA390890689
- ClinVar RCV000803325
- ClinVar RCV001759530
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.41
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)