E69Q (p.Glu69Gln) variant of TUBB2B (Tubulin beta-2B chain)
E69Q (p.Glu69Gln) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- rs1554126964
- ClinGen CA362589703
- ClinVar RCV000656280
- Ensembl rs1554126964
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.85
- PolyPhen-2 0.78
- EVE 0.97
- MutPred 0.78
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available