E13* (p.Glu13Ter) variant of TBCD (Tubulin-specific chaperone D)
E13* (p.Glu13Ter) 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.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- gnomAD 17-82752230-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available