E3D (p.Glu3Asp) variant of TUBB3 (Tubulin beta-3 chain)
E3D (p.Glu3Asp) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs2144399229
- ClinGen CA397466801
- cosmic curated COSV10513
- ClinVar RCV001752651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.67
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available