E6D (p.Glu6Asp) variant of TBCD (Tubulin-specific chaperone D)
E6D (p.Glu6Asp) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- gnomAD 17-82752210-AAC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.10
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available
- Literature evidence available