G59C (p.Gly59Cys) variant of ATXN2 (Ataxin-2)
G59C (p.Gly59Cys) in ATXN2 (Ataxin-2) 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 0.42 / 1. The record also includes population frequency data.
G59C (p.Gly59Cys) variant details
- p.Gly59Cys
- Ensembl rs905904179
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 23.90
- 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)