E17D (p.Glu17Asp) variant of TBCD (Tubulin-specific chaperone D)
E17D (p.Glu17Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 17-82752244-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.33
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available