E503D (p.Glu503Asp) variant of DICER1 (Endoribonuclease Dicer)
E503D (p.Glu503Asp) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of DICER1-related tumor predisposition. The record also includes published literature and structural context.
E503D (p.Glu503Asp) variant details
- p.Glu503Asp
- rs1595414866
- ClinGen CA390885360
- ClinVar RCV002008881
- ClinVar RCV005542658
- Likely pathogenic
- DICER1-related tumor predisposition
- Missense
- ClinVar: Likely pathogenic (DICER1-related tumor predisposition)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)