G64R (p.Gly64Arg) variant of ATXN1 (Ataxin-1)
G64R (p.Gly64Arg) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- TOPMed rs1360402468
- gnomAD rs1360402468
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 9.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available