Y116F (p.Tyr116Phe) variant of ATXN3 (Ataxin-3)
Y116F (p.Tyr116Phe) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
Y116F (p.Tyr116Phe) variant details
- p.Tyr116Phe
- ExAC rs778421428
- gnomAD rs778421428
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)