G44D (p.Gly44Asp) variant of ATXN2 (Ataxin-2)
G44D (p.Gly44Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- TOPMed rs1566092029
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)