D417N (p.Asp417Asn) variant of TUBB2B (Tubulin beta-2B chain)
D417N (p.Asp417Asn) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D417N (p.Asp417Asn) variant details
- p.Asp417Asn
- rs397514567
- ClinGen CA250738
- ClinVar RCV000032932
- UniProt VAR 078190
- Pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.13
- PolyPhen-2 0.96
- EVE 0.93
- MutPred 0.73
- ClinVar: Pathogenic (Complex cortical dysplasia with other brain malformations 7)
- EBI: Pathogenic (in CDCBM7)
- UniProt: Pathogenic (in CDCBM7)
- Structural context available
- Cited in: Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (PMID 22333901)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)