Q48K (p.Gln48Lys) variant of DICER1 (Endoribonuclease Dicer)
Q48K (p.Gln48Lys) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- rs1894113719
- ClinGen CA390890328
- ClinVar RCV003293520
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)