E3R (p.Glu3Arg) variant of TUBB3 (Tubulin beta-3 chain)
E3R (p.Glu3Arg) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E3R (p.Glu3Arg) variant details
- p.Glu3Arg
- gnomAD 16-89923405-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available