I30D (p.Ile30Asp) variant of TUBB2B (Tubulin beta-2B chain)
I30D (p.Ile30Asp) in TUBB2B (Tubulin beta-2B chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I30D (p.Ile30Asp) variant details
- p.Ile30Asp
- gnomAD 6-3226640-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 29.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available