A9D (p.Ala9Asp) variant of TUBB3 (Tubulin beta-3 chain)
A9D (p.Ala9Asp) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- TOPMed rs2029957696
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.64
- CADD 28.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available