E19* (p.Glu19Ter) variant of TBCD (Tubulin-specific chaperone D)
E19* (p.Glu19Ter) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- TOPMed rs1348366650
- gnomAD rs1348366650
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 36.00
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available