E22* (p.Glu22Ter) variant of TUBB2B (Tubulin beta-2B chain)
E22* (p.Glu22Ter) in TUBB2B (Tubulin beta-2B chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- TOPMed rs1757291243
- gnomAD rs1757291243
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available