P19R (p.Pro19Arg) variant of DICER1 (Endoribonuclease Dicer)
P19R (p.Pro19Arg) 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; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- rs587778227
- ClinGen CA390890654
- ClinVar RCV003752220
- ClinVar RCV004614490
- Uncertain significance
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)