I30T (p.Ile30Thr) variant of TUBB2B (Tubulin beta-2B chain)
I30T (p.Ile30Thr) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- ExAC rs769803437
- gnomAD rs769803437
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.79
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available