V49L (p.Val49Leu) variant of DICER1 (Endoribonuclease Dicer)
V49L (p.Val49Leu) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- rs1555376413
- ClinGen CA390890202
- ClinVar RCV000563819
- Ensembl rs1555376413
- Uncertain significance
- Missense
- 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)