Q45* (p.Gln45Ter) variant of LDB3 (LIM domain-binding protein 3)
Q45* (p.Gln45Ter) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs1057524744
- ClinGen CA16605696
- ClinVar RCV000422854
- Ensembl rs1057524744
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0871