G54D (p.Gly54Asp) variant of ATXN1 (Ataxin-1)
G54D (p.Gly54Asp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- ExAC rs762985181
- TOPMed rs762985181
- gnomAD rs762985181
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.11
- AlphaMissense 0.52
- MetaLR 0.14
- MetaSVM -0.81
- CADD 15.50
- PolyPhen-2 0.91
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available