E19D (p.Glu19Asp) variant of TBCD (Tubulin-specific chaperone D)
E19D (p.Glu19Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 17-82752250-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.039
- REVEL 0.01
- CADD 0.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available