D18G (p.Asp18Gly) variant of TBCD (Tubulin-specific chaperone D)
D18G (p.Asp18Gly) 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.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- gnomAD 17-82752246-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.02
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available