D75G (p.Asp75Gly) variant of ATXN2 (Ataxin-2)
D75G (p.Asp75Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D75G (p.Asp75Gly) variant details
- p.Asp75Gly
- gnomAD rs1238343244
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available