D39H (p.Asp39His) variant of TUBB2B (Tubulin beta-2B chain)
D39H (p.Asp39His) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D39H (p.Asp39His) variant details
- p.Asp39His
- gnomAD 6-3226612-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.60
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available