E6G (p.Glu6Gly) variant of TBCD (Tubulin-specific chaperone D)
E6G (p.Glu6Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- gnomAD 17-82752210-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0811
- REVEL 0.05
- CADD 7.79
- PolyPhen-2 0.04
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available