Q8R (p.Gln8Arg) variant of TUBB3 (Tubulin beta-3 chain)
Q8R (p.Gln8Arg) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- gnomAD 16-89923421-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 25.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available