E14D (p.Glu14Asp) variant of TBCD (Tubulin-specific chaperone D)
E14D (p.Glu14Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 17-82752235-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.02
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available