A16G (p.Ala16Gly) variant of TBCD (Tubulin-specific chaperone D)
A16G (p.Ala16Gly) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 17-82752239-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available