A22P (p.Ala22Pro) variant of TBCD (Tubulin-specific chaperone D)
A22P (p.Ala22Pro) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD 17-82752255-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available