A46T (p.Ala46Thr) variant of ATXN2 (Ataxin-2)
A46T (p.Ala46Thr) in ATXN2 (Ataxin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- 1000Genomes rs920435578
- TOPMed rs920435578
- gnomAD rs920435578
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 7.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)