G90A (p.Gly90Ala) variant of ATXN2 (Ataxin-2)
G90A (p.Gly90Ala) in ATXN2 (Ataxin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G90A (p.Gly90Ala) variant details
- p.Gly90Ala
- gnomAD 12-111453654-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 19.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available