G24C (p.Gly24Cys) variant of TBCD (Tubulin-specific chaperone D)
G24C (p.Gly24Cys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- gnomAD 17-82752263-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.04
- CADD 21.90
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available