E28D (p.Glu28Asp) variant of ATXN1 (Ataxin-1)
E28D (p.Glu28Asp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- TOPMed rs1760895460
- gnomAD rs1760895460
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.07
- AlphaMissense 0.43
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available