D5Y (p.Asp5Tyr) variant of TBCD (Tubulin-specific chaperone D)
D5Y (p.Asp5Tyr) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- gnomAD 17-82752206-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- REVEL 0.03
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available