K46Q (p.Lys46Gln) variant of DICER1 (Endoribonuclease Dicer)
K46Q (p.Lys46Gln) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
K46Q (p.Lys46Gln) variant details
- p.Lys46Gln
- rs1566816326
- ClinGen CA390890363
- ClinVar RCV000699235
- Ensembl rs1566816326
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)