E90Q (p.Glu90Gln) variant of ATXN3 (Ataxin-3)
E90Q (p.Glu90Gln) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
E90Q (p.Glu90Gln) variant details
- p.Glu90Gln
- gnomAD rs1355260124
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 23.70
- Most common in the South Asian population (allele frequency 1.2e-05)