S72Y (p.Ser72Tyr) variant of ATXN2 (Ataxin-2)
S72Y (p.Ser72Tyr) 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 0.36 / 1. The record also includes population frequency data.
S72Y (p.Ser72Tyr) variant details
- p.Ser72Tyr
- 1000Genomes rs536609944
- ExAC rs536609944
- TOPMed rs536609944
- gnomAD rs536609944
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 21.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)