A54V (p.Ala54Val) variant of DICER1 (Endoribonuclease Dicer)
A54V (p.Ala54Val) 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.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs1595466689
- ClinGen CA390890130
- ClinVar RCV000792873
- ClinVar RCV004949904
- Uncertain significance
- Missense
- 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)