T15I (p.Thr15Ile) variant of ATXN2 (Ataxin-2)
T15I (p.Thr15Ile) 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 0.10 / 1. The record also includes population frequency data.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- TOPMed rs1592947170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)