I80L (p.Ile80Leu) variant of ATXN3 (Ataxin-3)
I80L (p.Ile80Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
I80L (p.Ile80Leu) variant details
- p.Ile80Leu
- ExAC rs762049636
- TOPMed rs762049636
- gnomAD rs762049636
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)