E19V (p.Glu19Val) variant of TBCD (Tubulin-specific chaperone D)
E19V (p.Glu19Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- gnomAD 17-82752249-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.01
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available