E14V (p.Glu14Val) variant of TBCD (Tubulin-specific chaperone D)
E14V (p.Glu14Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- gnomAD 17-82752234-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.02
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available