E28D (p.Glu28Asp) variant of TBCD (Tubulin-specific chaperone D)
E28D (p.Glu28Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 17-82752277-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.05
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available