T20A (p.Thr20Ala) variant of TBCD (Tubulin-specific chaperone D)
T20A (p.Thr20Ala) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- gnomAD 17-82752251-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.01
- CADD 5.04
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available