R53P (p.Arg53Pro) variant of ATXN1 (Ataxin-1)
R53P (p.Arg53Pro) in ATXN1 (Ataxin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R53P (p.Arg53Pro) variant details
- p.Arg53Pro
- ExAC rs754100060
- TOPMed rs754100060
- gnomAD rs754100060
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available