L30* (p.Leu30Ter) variant of SLC6A1 (P30531)
L30* (p.Leu30Ter) in SLC6A1 (P30531) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L30* (p.Leu30Ter) variant details
- p.Leu30Ter
- rs2124905063
- ClinGen CA351788151
- ClinVar RCV003444912
- Ensembl rs2124905063
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)