Q11R (p.Gln11Arg) variant of TUBB2B (Tubulin beta-2B chain)
Q11R (p.Gln11Arg) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available record places it in the context of Complex cortical dysplasia with other brain malformations 7; Complex cortical dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- rs2113820411
- ClinGen CA362590388
- ClinVar RCV001825335
- Ensembl rs2113820411
- not provided
- Complex cortical dysplasia with other brain malformations 7; Complex cortical dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.48
- PolyPhen-2 0.02
- EVE 0.48
- MutPred 0.78
- ClinVar: not provided (Complex cortical dysplasia with other brain malformations 7; Com)
- UniProt: Not provided
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)