E27Q (p.Glu27Gln) variant of TUBA1A (Tubulin alpha-1A chain)
E27Q (p.Glu27Gln) 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 not provided; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- rs1057521064
- ClinGen CA16606296
- ClinVar RCV000425962
- ClinVar RCV000767421
- Pathogenic
- not provided; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic (not provided; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)