E90G (p.Glu90Gly) variant of TUBA1A (Tubulin alpha-1A chain)
E90G (p.Glu90Gly) 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 Lissencephaly due to TUBA1A mutation; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
E90G (p.Glu90Gly) variant details
- p.Glu90Gly
- rs797046072
- ClinGen CA213337
- ClinVar RCV000194237
- ClinVar RCV000767514
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.84
- MetaLR 0.61
- MetaSVM 0.59
- PolyPhen-2 0.65
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)