E28* (p.Glu28Ter) variant of TBCD (Tubulin-specific chaperone D)
E28* (p.Glu28Ter) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 17-82752275-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available