E17V (p.Glu17Val) variant of TBCD (Tubulin-specific chaperone D)
E17V (p.Glu17Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- gnomAD 17-82752243-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.11
- CADD 25.40
- PolyPhen-2 0.61
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available