D417H (p.Asp417His) variant of TUBB3 (Tubulin beta-3 chain)
D417H (p.Asp417His) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular inv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D417H (p.Asp417His) variant details
- p.Asp417His
- rs267607164
- ClinGen CA340622
- ClinVar RCV000007380
- UniProt VAR 062764
- Pathogenic
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular inv
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Fibrosis of extraocular muscles, congenital, 3A, with or without)
- 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)