R262H (p.Arg262His) variant of TUBB3 (Tubulin beta-3 chain)
R262H (p.Arg262His) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of TUBB3-related tubulinopathy; not provided; Fibrosis of extraocular muscles, cong. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R262H (p.Arg262His) variant details
- p.Arg262His
- rs864321716
- ClinGen CA347962
- ClinVar RCV000203607
- ClinVar RCV000519071
- Pathogenic/Likely pathogenic
- TUBB3-related tubulinopathy; not provided; Fibrosis of extraocular muscles, cong
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.90
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (TUBB3-related tubulinopathy; not provided; Fibrosis of extraocul)
- EBI: Pathogenic (in CFEOM3A)
- UniProt: Pathogenic (in CFEOM3A)
- Structural context available
- Cited in: Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PMID 20074521)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)