L117P (p.Leu117Pro) variant of TUBB3 (Tubulin beta-3 chain)
L117P (p.Leu117Pro) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complex cortical dysplasia with other brain malformations 1. The record also includes published literature and structural context.
L117P (p.Leu117Pro) variant details
- p.Leu117Pro
- rs2544627119
- ClinGen CA397474267
- ClinVar RCV003333595
- Uncertain significance
- Complex cortical dysplasia with other brain malformations 1
- Missense
- ClinVar: Uncertain significance (Complex cortical dysplasia with other brain malformations 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)