A29V (p.Ala29Val) variant of TBCD (Tubulin-specific chaperone D)
A29V (p.Ala29Val) 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.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 17-82752279-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.02
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available