E6* (p.Glu6Ter) variant of TBCD (Tubulin-specific chaperone D)
E6* (p.Glu6Ter) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- rs1010575243
- ClinGen CA295248404
- ClinVar RCV003548440
- TOPMed rs1010575243
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available