A73P (p.Ala73Pro) variant of ATXN2 (Ataxin-2)
A73P (p.Ala73Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A73P (p.Ala73Pro) variant details
- p.Ala73Pro
- gnomAD rs1380791606
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 18.40
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available