E6Q (p.Glu6Gln) variant of TBCD (Tubulin-specific chaperone D)
E6Q (p.Glu6Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- TOPMed rs1010575243
- gnomAD rs1010575243
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available