Q157L (p.Gln157Leu) variant of ATXN3 (Ataxin-3)
Q157L (p.Gln157Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
Q157L (p.Gln157Leu) variant details
- p.Gln157Leu
- gnomAD rs2063128598
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)