Q119R (p.Gln119Arg) variant of ATXN1 (Ataxin-1)
Q119R (p.Gln119Arg) 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 0.51 / 1. The record also includes population frequency data and structural context.
Q119R (p.Gln119Arg) variant details
- p.Gln119Arg
- 1000Genomes rs567297318
- ExAC rs567297318
- TOPMed rs567297318
- gnomAD rs567297318
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.56
- AlphaMissense 0.11
- MetaLR 0.17
- MetaSVM -0.82
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available