A9E (p.Ala9Glu) variant of TUBB2B (Tubulin beta-2B chain)
A9E (p.Ala9Glu) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- rs2533621468
- ClinGen CA362590399
- ClinVar RCV003565224
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.55
- CADD 29.60
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available