Q64E (p.Gln64Glu) variant of ATXN3 (Ataxin-3)
Q64E (p.Gln64Glu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
Q64E (p.Gln64Glu) variant details
- p.Gln64Glu
- gnomAD rs1407416880
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 27.10
- PolyPhen-2 0.24
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)