A7P (p.Ala7Pro) variant of ATXN2 (Ataxin-2)
A7P (p.Ala7Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- TOPMed rs973735194
- gnomAD rs973735194
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 4.62
- Most common in the Middle Eastern population (allele frequency 0.0007)