H6Q (p.His6Gln) variant of TUBB3 (Tubulin beta-3 chain)
H6Q (p.His6Gln) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- gnomAD 16-89923419-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available