E13D (p.Glu13Asp) variant of TBCD (Tubulin-specific chaperone D)
E13D (p.Glu13Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- gnomAD 17-82752232-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0867
- REVEL 0.03
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available