G90C (p.Gly90Cys) variant of ATXN2 (Ataxin-2)
G90C (p.Gly90Cys) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G90C (p.Gly90Cys) variant details
- p.Gly90Cys
- 1000Genomes rs1885134947
- TOPMed rs1885134947
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 22.50
- Population evidence available
- Structural context available