G11C (p.Gly11Cys) variant of TBCD (Tubulin-specific chaperone D)
G11C (p.Gly11Cys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 17-82752224-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.09
- CADD 14.80
- PolyPhen-2 0.39
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available