C211Y (p.Cys211Tyr) variant of TUBB2B (Tubulin beta-2B chain)
C211Y (p.Cys211Tyr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C211Y (p.Cys211Tyr) variant details
- p.Cys211Tyr
- rs1468452245
- ClinGen CA362587630
- ClinVar RCV003883273
- gnomAD rs1468452245
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.87
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)