A29E (p.Ala29Glu) variant of TBCD (Tubulin-specific chaperone D)
A29E (p.Ala29Glu) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- gnomAD 17-82752279-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.01
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available