S79T (p.Ser79Thr) variant of ATXN2 (Ataxin-2)
S79T (p.Ser79Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S79T (p.Ser79Thr) variant details
- p.Ser79Thr
- TOPMed rs1312124600
- gnomAD rs1312124600
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available