Q8H (p.Gln8His) variant of TUBB3 (Tubulin beta-3 chain)
Q8H (p.Gln8His) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- gnomAD 16-89923425-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available