G59S (p.Gly59Ser) variant of TUBA1A (Tubulin alpha-1A chain)
G59S (p.Gly59Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G59S (p.Gly59Ser) variant details
- p.Gly59Ser
- rs1565627712
- ClinGen CA384644924
- ClinVar RCV000767485
- Ensembl rs1565627712
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.77
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 0.82
- SIFT 0.00
- MutPred 0.65
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)