E27Q (p.Glu27Gln) variant of ATXN1 (Ataxin-1)
E27Q (p.Glu27Gln) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- 1000Genomes rs551689167
- TOPMed rs551689167
- gnomAD rs551689167
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.15
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.60
- PolyPhen-2 0.94
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available