S72F (p.Ser72Phe) variant of ATXN2 (Ataxin-2)
S72F (p.Ser72Phe) 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.
S72F (p.Ser72Phe) variant details
- p.Ser72Phe
- 1000Genomes rs536609944
- ExAC rs536609944
- TOPMed rs536609944
- gnomAD rs536609944
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 22.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)