A23T (p.Ala23Thr) variant of ATXN2 (Ataxin-2)
A23T (p.Ala23Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- TOPMed rs1031423101
- gnomAD rs1031423101
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)