E28A (p.Glu28Ala) variant of TBCD (Tubulin-specific chaperone D)
E28A (p.Glu28Ala) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- gnomAD 17-82752276-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.07
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available