F81L (p.Phe81Leu) variant of TUBB2B (Tubulin beta-2B chain)
F81L (p.Phe81Leu) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex cortical dysplasia with other brain malformations 7. The record also includes published literature and structural context.
F81L (p.Phe81Leu) variant details
- p.Phe81Leu
- rs1403441857
- ClinVar RCV004595284
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)