E17G (p.Glu17Gly) variant of TBCD (Tubulin-specific chaperone D)
E17G (p.Glu17Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 17-82752243-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- CADD 23.30
- PolyPhen-2 0.43
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available