R53L (p.Arg53Leu) variant of ATXN1 (Ataxin-1)
R53L (p.Arg53Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- ExAC rs754100060
- TOPMed rs754100060
- gnomAD rs754100060
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.01
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available