R380L (p.Arg380Leu) variant of TUBB2B (Tubulin beta-2B chain)
R380L (p.Arg380Leu) 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 Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R380L (p.Arg380Leu) variant details
- p.Arg380Leu
- rs587784498
- ClinGen CA251173
- ClinVar RCV000147833
- gnomAD rs587784498
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.95
- MetaLR 0.58
- MetaSVM 0.26
- PolyPhen-2 0.25
- EVE 0.87
- MutPred 0.78
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)