E19G (p.Glu19Gly) variant of TBCD (Tubulin-specific chaperone D)
E19G (p.Glu19Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD 17-82752249-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.01
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available