R380H (p.Arg380His) variant of TUBB2B (Tubulin beta-2B chain)
R380H (p.Arg380His) 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 not provided; Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R380H (p.Arg380His) variant details
- p.Arg380His
- rs587784498
- ClinGen CA362585256
- ClinVar RCV003326042
- ClinVar RCV003689057
- Pathogenic/Likely pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.81
- AlphaMissense 0.95
- MetaLR 0.58
- MetaSVM 0.26
- CADD 25.10
- PolyPhen-2 0.25
- ClinVar: Pathogenic/Likely pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)