G142S (p.Gly142Ser) variant of TUBB3 (Tubulin beta-3 chain)
G142S (p.Gly142Ser) 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 not provided; Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G142S (p.Gly142Ser) variant details
- p.Gly142Ser
- rs1131691895
- ClinGen CA397474481
- ClinVar RCV000493980
- ClinVar RCV002056825
- Pathogenic/Likely pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)