E288A (p.Glu288Ala) variant of TUBB3 (Tubulin beta-3 chain)
E288A (p.Glu288Ala) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E288A (p.Glu288Ala) variant details
- p.Glu288Ala
- rs2030417656
- ClinGen CA397475633
- ClinVar RCV001198782
- Ensembl rs2030417656
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.78
- PolyPhen-2 0.35
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)