R59C (p.Arg59Cys) variant of ATXN3 (Ataxin-3)
R59C (p.Arg59Cys) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar 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 0.79 / 1. The record also includes population frequency data.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- 1000Genomes rs147833264
- ESP rs147833264
- ExAC rs147833264
- TOPMed rs147833264
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 27.00
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)