L139P (p.Leu139Pro) variant of TUBB2B (Tubulin beta-2B chain)
L139P (p.Leu139Pro) 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 Tubulinopathy. The record also includes published literature and structural context.
L139P (p.Leu139Pro) variant details
- p.Leu139Pro
- rs2533617634
- ClinGen CA362588806
- ClinVar RCV003985151
- NCI-TCGA TCGA novel
- Likely pathogenic
- Tubulinopathy
- Missense
- ClinVar: Likely pathogenic (Tubulinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)