M17V (p.Met17Val) variant of DICER1 (Endoribonuclease Dicer)
M17V (p.Met17Val) 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.
M17V (p.Met17Val) variant details
- p.Met17Val
- rs1555376587
- ClinGen CA390890686
- ClinVar RCV001339235
- TOPMed rs1555376587
- 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)