G96E (p.Gly96Glu) variant of TUBB2B (Tubulin beta-2B chain)
G96E (p.Gly96Glu) 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 not provided. The record also includes structural context.
G96E (p.Gly96Glu) variant details
- p.Gly96Glu
- rs2533617772
- ClinGen CA362589481
- ClinVar RCV002298377
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available