E28G (p.Glu28Gly) variant of TBCD (Tubulin-specific chaperone D)
E28G (p.Glu28Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 17-82752276-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available