G142C (p.Gly142Cys) variant of TUBA1A (Tubulin alpha-1A chain)
G142C (p.Gly142Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
G142C (p.Gly142Cys) variant details
- p.Gly142Cys
- rs1555162407
- ClinGen CA384642692
- ClinVar RCV000497965
- ClinVar RCV000767511
- Likely pathogenic
- not provided; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.97
- MetaLR 0.60
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (not provided; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)