G78R (p.Gly78Arg) variant of ATXN2 (Ataxin-2)
G78R (p.Gly78Arg) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- TOPMed rs1374016546
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available