Q48P (p.Gln48Pro) variant of DICER1 (Endoribonuclease Dicer)
Q48P (p.Gln48Pro) 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.
Q48P (p.Gln48Pro) variant details
- p.Gln48Pro
- rs2543387511
- ClinGen CA390890323
- ClinVar RCV002394327
- 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)