R380C (p.Arg380Cys) variant of TUBB2B (Tubulin beta-2B chain)
R380C (p.Arg380Cys) 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 not provided; 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 population frequency data, published literature, and structural context.
R380C (p.Arg380Cys) variant details
- p.Arg380Cys
- rs1757271243
- ClinGen CA362585259
- ClinVar RCV001581992
- ClinVar RCV002246443
- Pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.88
- CADD 28.40
- PolyPhen-2 0.55
- SIFT 0.04
- ClinVar: 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)