R53Q (p.Arg53Gln) variant of ATXN1 (Ataxin-1)
R53Q (p.Arg53Gln) 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 0.20 / 1. The record also includes population frequency data and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- ExAC rs754100060
- TOPMed rs754100060
- gnomAD rs754100060
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available