L27G (p.Leu27Gly) variant of TBCD (Tubulin-specific chaperone D)
L27G (p.Leu27Gly) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L27G (p.Leu27Gly) variant details
- p.Leu27Gly
- gnomAD 17-82752267-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available