G41D (p.Gly41Asp) variant of ATXN2 (Ataxin-2)
G41D (p.Gly41Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- TOPMed rs1262192397
- gnomAD rs1262192397
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available