P259L (p.Pro259Leu) variant of TUBB2B (Tubulin beta-2B chain)
P259L (p.Pro259Leu) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital bilateral perisylvian syndrome; Complex cortical dysplasia with other. The record also includes published literature and structural context.
P259L (p.Pro259Leu) variant details
- p.Pro259Leu
- rs2533617345
- ClinGen CA362586989
- ClinVar RCV002287296
- ClinVar RCV003445163
- Pathogenic
- Congenital bilateral perisylvian syndrome; Complex cortical dysplasia with other
- Missense
- ClinVar: Pathogenic (Congenital bilateral perisylvian syndrome; Complex cortical dysp)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)