E90Q (p.Glu90Gln) variant of TUBA1A (Tubulin alpha-1A chain)
E90Q (p.Glu90Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
E90Q (p.Glu90Gln) variant details
- p.Glu90Gln
- rs1555162495
- ClinGen CA384643567
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55498
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.84
- MetaLR 0.42
- MetaSVM -0.19
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.60
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available