Q179L (p.Gln179Leu) variant of ATXN3 (Ataxin-3)
Q179L (p.Gln179Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
Q179L (p.Gln179Leu) variant details
- p.Gln179Leu
- gnomAD rs2061778296
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 24.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)