F23L (p.Phe23Leu) variant of TBCD (Tubulin-specific chaperone D)
F23L (p.Phe23Leu) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- gnomAD 17-82752259-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available