K46R (p.Lys46Arg) variant of DICER1 (Endoribonuclease Dicer)
K46R (p.Lys46Arg) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- rs1595468517
- ClinGen CA390890353
- ClinVar RCV000820284
- ClinVar RCV002381862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.19
- CADD 24.80
- PolyPhen-2 0.87
- SIFT 0.09
- 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)