R380C (p.Arg380Cys) variant of TUBB3 (Tubulin beta-3 chain)
R380C (p.Arg380Cys) 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 not provided; Inborn genetic diseases; Complex cortical dysplasia with other bra. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R380C (p.Arg380Cys) variant details
- p.Arg380Cys
- rs864321717
- ClinGen CA347967
- ClinVar RCV000203611
- ClinVar RCV000255747
- Pathogenic
- not provided; Inborn genetic diseases; Complex cortical dysplasia with other bra
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.87
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.77
- CADD 30.00
- PolyPhen-2 0.93
- ClinVar: Pathogenic (not provided; Inborn genetic diseases; Complex cortical dysplasi)
- EBI: Pathogenic (in CFEOM3A)
- UniProt: Pathogenic (in CFEOM3A)
- Population evidence available
- Structural context available
- Cited in: Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PMID 20074521)
- Cited in: Tubulinopathies Overview. (PMID 27010057)