A16E (p.Ala16Glu) variant of TBCD (Tubulin-specific chaperone D)
A16E (p.Ala16Glu) 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.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 17-82752240-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available