A54D (p.Ala54Asp) variant of ATXN2 (Ataxin-2)
A54D (p.Ala54Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
A54D (p.Ala54Asp) variant details
- p.Ala54Asp
- TOPMed rs1257412203
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 22.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)