A2G (p.Ala2Gly) variant of TBCD (Tubulin-specific chaperone D)
A2G (p.Ala2Gly) 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.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 17-82752198-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.11
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available