A102D (p.Ala102Asp) variant of TUBB2B (Tubulin beta-2B chain)
A102D (p.Ala102Asp) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A102D (p.Ala102Asp) variant details
- p.Ala102Asp
- gnomAD 6-3225784-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.84
- CADD 27.70
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available