G31C (p.Gly31Cys) variant of TBCD (Tubulin-specific chaperone D)
G31C (p.Gly31Cys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G31C (p.Gly31Cys) variant details
- p.Gly31Cys
- gnomAD 17-82752284-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.10
- CADD 23.90
- PolyPhen-2 0.68
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available