L34* (p.Leu34Ter) variant of TBK1 (Q9UHD2)
L34* (p.Leu34Ter) in TBK1 (Q9UHD2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L34* (p.Leu34Ter) variant details
- p.Leu34Ter
- rs2539482429
- ClinGen CA385594279
- ClinVar RCV003753864
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)