I582F (p.Ile582Phe) variant of DICER1 (Endoribonuclease Dicer)
I582F (p.Ile582Phe) 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.
I582F (p.Ile582Phe) variant details
- p.Ile582Phe
- rs2140122754
- ClinGen CA390884660
- ClinVar RCV003751172
- ClinVar RCV006554956
- 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)