G90D (p.Gly90Asp) variant of ATXN2 (Ataxin-2)
G90D (p.Gly90Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G90D (p.Gly90Asp) variant details
- p.Gly90Asp
- rs1369005573
- gnomAD 12-111453655-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available