E27D (p.Glu27Asp) variant of TUBB2B (Tubulin beta-2B chain)
E27D (p.Glu27Asp) 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 Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs1757291076
- ClinGen CA362589999
- ClinVar RCV001262635
- Ensembl rs1757291076
- Uncertain significance
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.01
- PolyPhen-2 0.00
- EVE 0.82
- MutPred 0.77
- ClinVar: Uncertain significance (Complex cortical dysplasia with other brain malformations 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)