P71R (p.Pro71Arg) variant of ATXN2 (Ataxin-2)
P71R (p.Pro71Arg) in ATXN2 (Ataxin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
P71R (p.Pro71Arg) variant details
- p.Pro71Arg
- TOPMed rs879391188
- gnomAD rs879391188
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 22.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)