D5E (p.Asp5Glu) variant of TBCD (Tubulin-specific chaperone D)
D5E (p.Asp5Glu) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- gnomAD 17-82752207-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 6.52
- Most common in the HGDP:ORCADIAN population (allele frequency 0.5)
- Structural context available
- Literature evidence available