E14G (p.Glu14Gly) variant of TBCD (Tubulin-specific chaperone D)
E14G (p.Glu14Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- gnomAD 17-82752234-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available