L273V (p.Leu273Val) variant of TUBB3 (Tubulin beta-3 chain)
L273V (p.Leu273Val) in TUBB3 (Tubulin beta-3 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 1; See cases. The record also includes published literature and structural context.
L273V (p.Leu273Val) variant details
- p.Leu273Val
- rs2544627741
- ClinGen CA397475438
- ClinVar RCV002287664
- ClinVar RCV005869777
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 1; See cases
- Missense
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 1; See)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)