E410K (p.Glu410Lys) variant of TUBB3 (Tubulin beta-3 chain)
E410K (p.Glu410Lys) 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 TUBB3-Releated Disorders; TUBB3-related tubulinopathy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E410K (p.Glu410Lys) variant details
- p.Glu410Lys
- rs267607165
- ClinGen CA213335
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10020
- Pathogenic
- TUBB3-Releated Disorders; TUBB3-related tubulinopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.68
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (TUBB3-Releated Disorders; TUBB3-related tubulinopathy; Inborn ge)
- 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: Tubulinopathies Overview. (PMID 27010057)