G39R (p.Gly39Arg) variant of ATXN2 (Ataxin-2)
G39R (p.Gly39Arg) in ATXN2 (Ataxin-2) 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 0.43 / 1. The record also includes population frequency data.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- TOPMed rs1885151664
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 17.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)