H58Y (p.His58Tyr) variant of DICER1 (Endoribonuclease Dicer)
H58Y (p.His58Tyr) 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. The record also includes published literature and structural context.
H58Y (p.His58Tyr) variant details
- p.His58Tyr
- rs1555376409
- ClinGen CA390890074
- ClinVar RCV003590629
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)