A5T (p.Ala5Thr) variant of ATXN2 (Ataxin-2)
A5T (p.Ala5Thr) in ATXN2 (Ataxin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs1465546289
- gnomAD rs1465546289
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 13.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)