E53* (p.Glu53Ter) variant of TUBB2B (Tubulin beta-2B chain)
E53* (p.Glu53Ter) in TUBB2B (Tubulin beta-2B chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- gnomAD 6-3226570-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available