A55G (p.Ala55Gly) variant of DICER1 (Endoribonuclease Dicer)
A55G (p.Ala55Gly) 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.
A55G (p.Ala55Gly) variant details
- p.Ala55Gly
- rs2140289108
- ClinGen CA390890104
- ClinVar RCV001939866
- Ensembl rs2140289108
- 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)