E28E (p.Glu28Glu) variant of TBCD (Tubulin-specific chaperone D)
E28E (p.Glu28Glu) in TBCD (Tubulin-specific chaperone D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs1388569821
- gnomAD 17-82752277-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 11.40
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available
- Literature evidence available