P97R (p.Pro97Arg) variant of ATXN3 (Ataxin-3)
P97R (p.Pro97Arg) 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 0.76 / 1. The record also includes population frequency data.
P97R (p.Pro97Arg) variant details
- p.Pro97Arg
- 1000Genomes rs545673644
- ExAC rs545673644
- TOPMed rs545673644
- gnomAD rs545673644
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 23.90
- PolyPhen-2 0.80
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)