E28V (p.Glu28Val) variant of TBCD (Tubulin-specific chaperone D)
E28V (p.Glu28Val) 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.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- gnomAD 17-82752276-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.12
- CADD 24.10
- PolyPhen-2 0.23
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available