A86E (p.Ala86Glu) variant of ATXN2 (Ataxin-2)
A86E (p.Ala86Glu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
A86E (p.Ala86Glu) variant details
- p.Ala86Glu
- gnomAD 12-111453670-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 16.00
- Population evidence available
- Literature evidence available