D417N (p.Asp417Asn) variant of TUBB3 (Tubulin beta-3 chain)
D417N (p.Asp417Asn) 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; Complex cortical dysplasia with other. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D417N (p.Asp417Asn) variant details
- p.Asp417Asn
- rs267607164
- ClinGen CA340624
- NCI-TCGA Cosmic COSV5924
- cosmic curated COSV59248
- Pathogenic/Likely pathogenic
- TUBB3-related tubulinopathy; not provided; Complex cortical dysplasia with other
- 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/Likely pathogenic (TUBB3-related tubulinopathy; not provided; Complex cortical dysp)
- 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 thr ocular muscles: a diagnosis for several clinical pictures]. (PMID 2133536)