Q66* (p.Gln66Ter) variant of LDB3 (LIM domain-binding protein 3)
Q66* (p.Gln66Ter) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
Q66* (p.Gln66Ter) variant details
- p.Gln66Ter
- rs1554849100
- ClinGen CA377451403
- ClinVar RCV000639874
- Ensembl rs1554849100
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0467