F30Y (p.Phe30Tyr) variant of TBCD (Tubulin-specific chaperone D)
F30Y (p.Phe30Tyr) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F30Y (p.Phe30Tyr) variant details
- p.Phe30Tyr
- gnomAD 17-82752282-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available