E90* (p.Glu90Ter) variant of TUBA1A (Tubulin alpha-1A chain)
E90* (p.Glu90Ter) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E90* (p.Glu90Ter) variant details
- p.Glu90Ter
- Ensembl rs1555162495
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available