E410K (p.Glu410Lys) variant of TUBB2B (Tubulin beta-2B chain)
E410K (p.Glu410Lys) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E410K (p.Glu410Lys) variant details
- p.Glu410Lys
- rs2113818881
- ClinGen CA362584664
- ClinVar RCV001558184
- ClinVar RCV003985102
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 1.00
- EVE 0.91
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)