G24V (p.Gly24Val) variant of TBCD (Tubulin-specific chaperone D)
G24V (p.Gly24Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- gnomAD 17-82752264-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.04
- CADD 17.60
- PolyPhen-2 0.38
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available