E14* (p.Glu14Ter) variant of TBCD (Tubulin-specific chaperone D)
E14* (p.Glu14Ter) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- gnomAD 17-82752233-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 39.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available