A54V (p.Ala54Val) variant of ATXN2 (Ataxin-2)
A54V (p.Ala54Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- TOPMed rs1257412203
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)