E28Q (p.Glu28Gln) variant of TBCD (Tubulin-specific chaperone D)
E28Q (p.Glu28Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 17-82752275-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available