A9V (p.Ala9Val) variant of TBCD (Tubulin-specific chaperone D)
A9V (p.Ala9Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 17-82752219-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.01
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available