A45S (p.Ala45Ser) variant of ATXN2 (Ataxin-2)
A45S (p.Ala45Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- gnomAD rs1244045344
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 10.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)