Q11H (p.Gln11His) variant of TUBB2B (Tubulin beta-2B chain)
Q11H (p.Gln11His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs1135401758
- ClinGen CA362590385
- ClinVar RCV000496148
- ClinVar RCV000519098
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.58
- PolyPhen-2 0.99
- EVE 0.50
- MutPred 0.79
- ClinVar: Likely pathogenic (not provided)
- 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)